{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:09:06Z","timestamp":1790744946229,"version":"4.1.0"},"reference-count":121,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T00:00:00Z","timestamp":1591401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T00:00:00Z","timestamp":1591401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN 2017ALCR7C"],"award-info":[{"award-number":["PRIN 2017ALCR7C"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN 2017ALCR7C"],"award-info":[{"award-number":["PRIN 2017ALCR7C"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["2014 RBSI1444EM"],"award-info":[{"award-number":["2014 RBSI1444EM"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN 2017YH3SXK"],"award-info":[{"award-number":["PRIN 2017YH3SXK"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2016-02363337"],"award-info":[{"award-number":["GR-2016-02363337"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007195","name":"Universit\u00e0 degli Studi di Napoli Federico II","doi-asserted-by":"publisher","award":["6-CSP-UNINA-120"],"award-info":[{"award-number":["6-CSP-UNINA-120"]}],"id":[{"id":"10.13039\/100007195","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pflugers Arch - Eur J Physiol"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1007\/s00424-020-02404-2","type":"journal-article","created":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T01:02:46Z","timestamp":1591405366000},"page":"881-898","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":120,"title":["Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction"],"prefix":"10.1007","volume":"472","author":[{"given":"Piera","family":"Nappi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Miceli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Virginia","family":"Soldovieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Ambrosino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Barrese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8202-0560","authenticated-orcid":false,"given":"Maurizio","family":"Taglialatela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,6]]},"reference":[{"key":"2404_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.nbd.2015.04.017","volume":"80","author":"A Abidi","year":"2015","unstructured":"Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissi\u00e8re S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L (2015) A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels. Neurobiol Dis 80:80\u201392. https:\/\/doi.org\/10.1016\/j.nbd.2015.04.017","journal-title":"Neurobiol Dis"},{"key":"2404_CR2","doi-asserted-by":"publisher","first-page":"20668","DOI":"10.1074\/jbc.M109.019539","volume":"284","author":"A Alaimo","year":"2009","unstructured":"Alaimo A, G\u00f3mez-Posada JC, Aivar P, Etxeberr\u00eda A, Rodriguez Alfaro JA, Areso P, Villarroel A (2009) Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum. J Biol Chem 284:20668\u201320675. https:\/\/doi.org\/10.1074\/jbc.M109.019539","journal-title":"J Biol Chem"},{"key":"2404_CR3","doi-asserted-by":"publisher","first-page":"7009","DOI":"10.1007\/s12035-018-0883-5","volume":"55","author":"P Ambrosino","year":"2018","unstructured":"Ambrosino P, Freri E, Castellotti B, Soldovieri MV, Mosca I, Manocchio L, Gellera C, Canafoglia L, Franceschetti S, Salis B, Iraci N, Miceli F, Ragona F, Granata T, DiFrancesco JC, Taglialatela M (2018) Kv7.3 compound heterozygous variants in early onset encephalopathy reveal additive contribution of C-terminal residues to PIP2-dependent K+ channel gating. Mol Neurobiol 55:7009\u20137024. https:\/\/doi.org\/10.1007\/s12035-018-0883-5","journal-title":"Mol Neurobiol"},{"key":"2404_CR4","doi-asserted-by":"publisher","first-page":"3719","DOI":"10.1523\/JNEUROSCI.4206-13.2014","volume":"34","author":"A Battefeld","year":"2014","unstructured":"Battefeld A, Tran BT, Gavrilis J, Cooper EC, Kole MH (2014) Heteromeric Kv7.2\/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. J Neurosci 34:3719\u20133732. https:\/\/doi.org\/10.1523\/JNEUROSCI.4206-13.2014","journal-title":"J Neurosci"},{"key":"2404_CR5","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1177\/1073858412438697","volume":"18","author":"Y Ben-Ari","year":"2012","unstructured":"Ben-Ari Y, Khalilov I, Kahle KT, Cherubini E (2012) The GABA excitatory\/inhibitory shift in brain maturation and neurological disorders. Neuroscientist 18:467\u2013486. https:\/\/doi.org\/10.1177\/1073858412438697","journal-title":"Neuroscientist"},{"key":"2404_CR6","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/ana.20029","volume":"55","author":"SF Berkovic","year":"2004","unstructured":"Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE (2004) Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 55:550\u2013557. https:\/\/doi.org\/10.1002\/ana.20029","journal-title":"Ann Neurol"},{"key":"2404_CR7","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1016\/j.ejpn.2011.11.004","volume":"16","author":"L Blumkin","year":"2012","unstructured":"Blumkin L, Suls A, Deconinck T, De Jonghe P, Linder I, Kivity S, Dabby R, Leshinsky-Silver E, Lev D, Lerman-Sagie T (2012) Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. Eur J Paediatr Neurol 16:356\u2013360. https:\/\/doi.org\/10.1016\/j.ejpn.2011.11.004","journal-title":"Eur J Paediatr Neurol"},{"key":"2404_CR8","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1038\/ejhg.2015.186","volume":"24","author":"DG Bosch","year":"2016","unstructured":"Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB (2016) Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 24:660\u2013665. https:\/\/doi.org\/10.1038\/ejhg.2015.186","journal-title":"Eur J Hum Genet"},{"issue":"60","key":"2404_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1146\/annurev-pharmtox-010919-023755","volume":"6","author":"DA Brown","year":"2020","unstructured":"Brown DA (2020) Neurons, receptors, and channels. Annu Rev Pharmacol Toxicol 6(60):9\u201330. https:\/\/doi.org\/10.1146\/annurev-pharmtox-010919-023755","journal-title":"Annu Rev Pharmacol Toxicol"},{"key":"2404_CR10","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1038\/283673a0","volume":"283","author":"DA Brown","year":"1980","unstructured":"Brown DA, Adams PR (1980) Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. Nature 283:673\u2013676. https:\/\/doi.org\/10.1038\/283673a0","journal-title":"Nature"},{"key":"2404_CR11","doi-asserted-by":"publisher","first-page":"RC199","DOI":"10.1523\/JNEUROSCI.22-02-j0003.2002","volume":"22","author":"P Castaldo","year":"2002","unstructured":"Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatel M (2002) Benign familial neonatal convulsions caused by altered gating of KCNQ2\/KCNQ3 potassium channels. J Neurosci 22:RC199","journal-title":"J Neurosci"},{"key":"2404_CR12","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.cophys.2017","volume":"2","author":"WA Catterall","year":"2018","unstructured":"Catterall WA (2018) Dravet syndrome: a sodium channel interneuronopathy. Curr Opin Physiol 2:42\u201350. https:\/\/doi.org\/10.1016\/j.cophys.2017","journal-title":"Curr Opin Physiol"},{"key":"2404_CR13","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/ng0198-53","volume":"18","author":"C Charlier","year":"1998","unstructured":"Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53\u201355. https:\/\/doi.org\/10.1038\/ng0198-53","journal-title":"Nat Genet"},{"key":"2404_CR14","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/0166-2236(91)90003-d","volume":"14","author":"E Cherubini","year":"1991","unstructured":"Cherubini E, Gaiarsa JL, Ben-Ari Y (1991) GABA: an excitatory transmitter in early postnatal life. Trends Neurosci 14:515\u2013519. https:\/\/doi.org\/10.1016\/0166-2236(91)90003-d","journal-title":"Trends Neurosci"},{"key":"2404_CR15","doi-asserted-by":"publisher","first-page":"9529","DOI":"10.1523\/JNEUROSCI.21-24-09529.2001","volume":"21","author":"EC Cooper","year":"2001","unstructured":"Cooper EC, Harrington E, Jan YN, Jan LY (2001) M channel KCNQ2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brain. J Neurosci 21:9529\u20139540","journal-title":"J Neurosci"},{"key":"2404_CR16","doi-asserted-by":"publisher","first-page":"12272","DOI":"10.1073\/pnas.211431298","volume":"98","author":"K Dedek","year":"2001","unstructured":"Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK (2001) Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. PNAS 98:12272\u201312277. https:\/\/doi.org\/10.1073\/pnas.211431298","journal-title":"PNAS"},{"key":"2404_CR17","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1523\/JNEUROSCI.4512-03.2004","volume":"24","author":"JJ Devaux","year":"2004","unstructured":"Devaux JJ, Kleopa KA, Cooper EC, Scherer SS (2004) KCNQ2 is a nodal K+ channel. J Neurosci 24:1236\u20131244. https:\/\/doi.org\/10.1523\/JNEUROSCI.4512-03.2004","journal-title":"J Neurosci"},{"key":"2404_CR18","doi-asserted-by":"publisher","first-page":"e87","DOI":"10.1111\/epi.13366","volume":"57","author":"JJ Devaux","year":"2016","unstructured":"Devaux JJ, Abidi A, Roubertie A, Molinari F, Becq H, Lacoste C, Villard L, Milh M, Aniksztejn L (2016) A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7\/M channel activity. Epilepsia 57:e87\u2013e93. https:\/\/doi.org\/10.1111\/epi.13366","journal-title":"Epilepsia"},{"key":"2404_CR19","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1038\/ng1585","volume":"37","author":"W Du","year":"2005","unstructured":"Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, L\u00fcders HO, Shi J, Cui J, Richerson GB, Wang QK (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 37:733\u2013738. https:\/\/doi.org\/10.1038\/ng1585","journal-title":"Nat Genet"},{"key":"2404_CR20","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nature12439","volume":"501","author":"Epi4K Consortium & Epilepsy Phenome\/Genome Project","year":"2013","unstructured":"Epi4K Consortium & Epilepsy Phenome\/Genome Project (2013) De novo mutations in epileptic encephalopathies. Nature 501:217\u2013221. https:\/\/doi.org\/10.1038\/nature12439","journal-title":"Nature"},{"key":"2404_CR21","doi-asserted-by":"publisher","first-page":"14158","DOI":"10.1523\/JNEUROSCI.2666-11.2011","volume":"31","author":"A Etzioni","year":"2011","unstructured":"Etzioni A, Siloni S, Chikvashvilli D, Strulovich R, Sachyani D, Regev N, Greitzer-Antes D, Hirsch JA, Lotan I (2011) Regulation of neuronal M-channel gating in an isoform-specific manner: functional interplay between calmodulin and syntaxin 1A. J Neurosci 31:14158\u201314171. https:\/\/doi.org\/10.1523\/JNEUROSCI.2666-11.2011","journal-title":"J Neurosci"},{"issue":"6","key":"2404_CR22","doi-asserted-by":"publisher","first-page":"6254","DOI":"10.1038\/ncomms7254","volume":"4","author":"P Fidzinski","year":"2015","unstructured":"Fidzinski P, Korotkova T, Heidenreich M, Maier N, Schuetze S, Kobler O, Zuschratter W, Schmitz D, Ponomarenko A, Jentsch TJ (2015) KCNQ5 K(+) channels control hippocampal synaptic inhibition and fast network oscillations. Nat Commun 4(6):6254. https:\/\/doi.org\/10.1038\/ncomms7254","journal-title":"Nat Commun"},{"key":"2404_CR23","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.neulet.2006.02.017","volume":"400","author":"J Geiger","year":"2006","unstructured":"Geiger J, Weber YG, Landwehrmeyer B, Sommer C, Lerche H (2006) Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain. Neurosci Lett 400:101\u2013104. https:\/\/doi.org\/10.1016\/j.neulet.2006.02.017","journal-title":"Neurosci Lett"},{"key":"2404_CR24","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.pediatrneurol.2009.05.009","volume":"41","author":"H Goldberg-Stern","year":"2009","unstructured":"Goldberg-Stern H, Kaufmann R, Kivity S, Afawi Z, Heron SE (2009) Novel mutation in KCNQ2 causing benign familial neonatal seizures. Pediatr Neurol 41:367\u2013370. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2009.05.009","journal-title":"Pediatr Neurol"},{"key":"2404_CR25","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1111\/epi.16314","volume":"60","author":"A Goto","year":"2019","unstructured":"Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S (2019) Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia 60:1870\u20131880. https:\/\/doi.org\/10.1111\/epi.16314","journal-title":"Epilepsia"},{"key":"2404_CR26","doi-asserted-by":"publisher","first-page":"1908","DOI":"10.1111\/epi.14541","volume":"59","author":"DL Greene","year":"2018","unstructured":"Greene DL, Kosenko A, Hoshi N (2018) Attenuating M-current suppression in vivo by a mutant Kcnq2 gene knock-in reduces seizure burden and prevents status epilepticus-induced neuronal death and epileptogenesis. Epilepsia 59:1908\u20131918. https:\/\/doi.org\/10.1111\/epi.14541","journal-title":"Epilepsia"},{"key":"2404_CR27","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1111\/epi.13020","volume":"56","author":"BE Grinton","year":"2015","unstructured":"Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF (2015) Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. Epilepsia 56:1071\u20131080. https:\/\/doi.org\/10.1111\/epi.13020","journal-title":"Epilepsia"},{"key":"2404_CR28","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1002\/humu.22901","volume":"36","author":"D Grozeva","year":"2015","unstructured":"Grozeva D, Carss K, Spasic-Boskovic O et al (2015) Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Hum Mutat 36:1197\u20131204. https:\/\/doi.org\/10.1002\/humu.22901","journal-title":"Hum Mutat"},{"key":"2404_CR29","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1113\/jphysiol.2005.086835","volume":"566","author":"N Gu","year":"2005","unstructured":"Gu N, Vervaeke K, Hu H, Storm JF (2005) Kv7\/KCNQ\/M and HCN\/h, but not KCa2\/SK channels,contribute to the somatic medium after-hyperpolarization and excitability control in CA1 hippocampal pyramidal cells. J Physiol 566:689\u2013715. https:\/\/doi.org\/10.1113\/jphysiol.2005.086835","journal-title":"J Physiol"},{"key":"2404_CR30","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/0006-8993(82)90954-4","volume":"250","author":"JV Halliwell","year":"1982","unstructured":"Halliwell JV, Adams PR (1982) Voltage-clamp analysis of muscarinic excitation in hippocampal neurons. Brain Res 250:71\u201392. https:\/\/doi.org\/10.1016\/0006-8993(82)90954-4","journal-title":"Brain Res"},{"key":"2404_CR31","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/nn1062","volume":"6","author":"N Hoshi","year":"2003","unstructured":"Hoshi N, Zhang JS, Omaki M, Takeuchi T, Yokoyama S, Wanaverbecq N, Langeberg LK, Yoneda Y, Scott JD, Brown DA, Higashida H (2003) AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists. Nat Neurosci 6:564\u2013571. https:\/\/doi.org\/10.1038\/nn1062","journal-title":"Nat Neurosci"},{"key":"2404_CR32","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1124\/jpet.109.162800","volume":"332","author":"FA Iannotti","year":"2010","unstructured":"Iannotti FA, Panza E, Barrese V, Viggiano D, Soldovieri MV, Taglialatela M (2010) Expression, localization, and pharmacological role of Kv7 potassium channels in skeletal muscle proliferation, differentiation, and survival after myotoxic insults. J Pharmacol Exp Ther 332:811\u2013820. https:\/\/doi.org\/10.1124\/jpet.109.162800","journal-title":"J Pharmacol Exp Ther"},{"key":"2404_CR33","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1091\/mbc.E11-12-1044","volume":"24","author":"FA Iannotti","year":"2013","unstructured":"Iannotti FA, Barrese V, Formisano L, Miceli F, Taglialatela M (2013) Specification of skeletal muscle differentiation by repressor element-1 silencing transcription factor (REST)-regulated Kv7.4 potassium channels. Mol Biol Cell 24:274\u2013284. https:\/\/doi.org\/10.1091\/mbc.E11-12-1044","journal-title":"Mol Biol Cell"},{"key":"2404_CR34","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/j.phrs.2011.06.016","volume":"64","author":"V Ipavec","year":"2011","unstructured":"Ipavec V, Martire M, Barrese V, Taglialatela M, Curr\u00f2 D (2011) KV7 channels regulate muscle tone and nonadrenergic noncholinergic relaxation of the rat gastric fundus. Pharmacol Res 64:397\u2013409. https:\/\/doi.org\/10.1016\/j.phrs.2011.06.016","journal-title":"Pharmacol Res"},{"key":"2404_CR35","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1126\/science.1216533","volume":"336","author":"MO Jensen","year":"2012","unstructured":"Jensen MO, Jogini V, Borhani DW, Leffler AE, Dror RO, Shaw DE (2012) Mechanism of voltage gating in potassium channels. Science 336:229\u2013233. https:\/\/doi.org\/10.1126\/science.1216533","journal-title":"Science"},{"key":"2404_CR36","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/35036198","volume":"1","author":"TJ Jentsch","year":"2000","unstructured":"Jentsch TJ (2000) Neuronal KCNQ potassium channels: physiology and role in disease. Nat Rev Neurosci 1:21\u201330. https:\/\/doi.org\/10.1038\/35036198","journal-title":"Nat Rev Neurosci"},{"key":"2404_CR37","doi-asserted-by":"publisher","first-page":"G107","DOI":"10.1152\/ajpgi.00057.2009","volume":"297","author":"TA Jepps","year":"2009","unstructured":"Jepps TA, Greenwood IA, Moffatt JD, Sanders KM, Ohya S (2009) Molecular and functional characterization of Kv7 K+ channel in murine gastrointestinal smooth muscles. Am J Physiol Gastrointest Liver Physiol 297:G107\u2013G115. https:\/\/doi.org\/10.1152\/ajpgi.00057.2009","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"2404_CR38","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1161\/CIRCULATIONAHA.111.032136","volume":"124","author":"TA Jepps","year":"2011","unstructured":"Jepps TA, Chadha PS, Davis AJ, Harhun MI, Cockerill GW, Olesen SP, Hansen RS, Greenwood IA (2011) Downregulation of Kv7.4 channel activity in primary and secondary hypertension. Circulation 124:602\u2013611. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.111.032136","journal-title":"Circulation"},{"key":"2404_CR39","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.braindev.2007.11.003","volume":"30","author":"T Kanaumi","year":"2008","unstructured":"Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S (2008) Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 30:362\u2013369. https:\/\/doi.org\/10.1016\/j.braindev.2007.11.003","journal-title":"Brain Dev"},{"key":"2404_CR40","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1111\/epi.12200","volume":"54","author":"M Kato","year":"2013","unstructured":"Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, KoderaH NM, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H (2013) Clinical spectrum of early onset epilepticencephalopathies caused by KCNQ2 mutation. Epilepsia 54:1282\u20131287. https:\/\/doi.org\/10.1111\/epi.12200","journal-title":"Epilepsia"},{"key":"2404_CR41","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1016\/j.bpj.2016.01.006","volume":"110","author":"KS Kim","year":"2016","unstructured":"Kim KS, Duignan KM, Hawryluk JM, Soh H, Tzingounis AV (2016) The voltage activation of cortical KCNQ channels depends on global PIP2 levels. Biophys J 110:1089\u20131098. https:\/\/doi.org\/10.1016\/j.bpj.2016.01.006","journal-title":"Biophys J"},{"key":"2404_CR42","doi-asserted-by":"publisher","first-page":"e12599","DOI":"10.1111\/gbb.12599","volume":"19","author":"EC Kim","year":"2019","unstructured":"Kim EC, Patel J, Zhang J, Soh H, Rhodes JS, Tzingounis AV, Chung HJ (2019) Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors. Genes Brain Behav J 19:e12599. https:\/\/doi.org\/10.1111\/gbb.12599","journal-title":"Genes Brain Behav J"},{"key":"2404_CR43","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.seizure.2018.05.005","volume":"59","author":"K Kothur","year":"2018","unstructured":"Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B (2018) Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure. 59:132\u2013140. https:\/\/doi.org\/10.1016\/j.seizure.2018.05.005","journal-title":"Seizure."},{"key":"2404_CR44","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/s0092-8674(00)80556-5","volume":"96","author":"C Kubisch","year":"1999","unstructured":"Kubisch C, Schroeder BC, Friedrich T, L\u00fctjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437\u2013446. https:\/\/doi.org\/10.1016\/s0092-8674(00)80556-5","journal-title":"Cell"},{"key":"2404_CR45","doi-asserted-by":"publisher","first-page":"5281","DOI":"10.1113\/jphysiol.2008.164541","volume":"586","author":"DM Kullmann","year":"2008","unstructured":"Kullmann DM (2008) Benign neonatal convulsions and spontaneous network activity in the developing brain: is there a link? J Physiol 586:5281. https:\/\/doi.org\/10.1113\/jphysiol.2008.164541","journal-title":"J Physiol"},{"key":"2404_CR46","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1002\/epi4.12353","volume":"4","author":"A Lauritano","year":"2019","unstructured":"Lauritano A, Moutton S, Longobardi E, Tran Mau-Them F, Laudati G, Nappi P, Soldovieri MV, Ambrosino P, Cataldi M, Jouan T, Lehalle D, Maurey H, Philippe C, Miceli F, Vitobello A, Taglialatela M (2019) A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. Epilepsia Open 4:464\u2013475. https:\/\/doi.org\/10.1002\/epi4.12353","journal-title":"Epilepsia Open"},{"key":"2404_CR47","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ajhg.2017.05.016","volume":"101","author":"A Lehman","year":"2017","unstructured":"Lehman A, Thouta S, Mancini GM, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R, CAUSES Study; EPGEN Study, Guella I, MB MK, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T (2017) Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy. Am J Hum Genet 101:65\u201374. https:\/\/doi.org\/10.1016\/j.ajhg.2017.05.016","journal-title":"Am J Hum Genet"},{"key":"2404_CR48","doi-asserted-by":"publisher","first-page":"22395","DOI":"10.1074\/jbc.M002378200","volume":"275","author":"C Lerche","year":"2000","unstructured":"Lerche C, Scherer CR, Seebohm G, Derst C, Wei AD, Busch AE, Steinmeyer K (2000) Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity. J Biol Chem 275:22395\u201322400. https:\/\/doi.org\/10.1074\/jbc.M002378200","journal-title":"J Biol Chem"},{"key":"2404_CR49","doi-asserted-by":"publisher","first-page":"9825","DOI":"10.1523\/JNEUROSCI.2597-05.2005","volume":"25","author":"Y Li","year":"2005","unstructured":"Li Y, Gamper N, Hilgemann DW, Shapiro MS (2005) Regulation of Kv7 (KCNQ) K+ channel open probability by phosphatidylinositol 4,5-bisphosphate. J Neurosci 25:9825\u20139835. https:\/\/doi.org\/10.1523\/JNEUROSCI.2597-05.2005","journal-title":"J Neurosci"},{"key":"2404_CR50","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/nature06265","volume":"450","author":"SB Long","year":"2007","unstructured":"Long SB, Tao X, Campbell EB, MacKinnon R (2007) Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment. Nature 450:376\u2013382. https:\/\/doi.org\/10.1038\/nature06265","journal-title":"Nature"},{"key":"2404_CR51","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1111\/j.1471-4159.2009.05945.x","volume":"109","author":"R Luisi","year":"2009","unstructured":"Luisi R, Panza E, Barrese V, Iannotti FA, Viggiano D, Secondo A, Canzoniero LM, Martire M, Annunziato L, Taglialatela M (2009) Activation of pre-synaptic M-type K+ channels inhibits [3H]D-aspartate release by reducing Ca2+ entry through P\/Q-type voltage-gated Ca2+ channels. J Neurochem 109:168\u2013181. https:\/\/doi.org\/10.1111\/j.1471-4159.2009.05945.x","journal-title":"J Neurochem"},{"key":"2404_CR52","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/nrm4063","volume":"16","author":"S Lykke-Andersen","year":"2015","unstructured":"Lykke-Andersen S, Jensen TH (2015) Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes. Nat Rev Mol Cell Biol 16:665\u2013677.23. https:\/\/doi.org\/10.1038\/nrm4063","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2404_CR53","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1124\/mol.108.049825","volume":"74","author":"AR Mackie","year":"2008","unstructured":"Mackie AR, Byron KL (2008) Cardiovascular KCNQ (Kv7) potassium channels: physiological regulators and new targets for therapeutic intervention. Mol Pharmacol 74:1171\u20131179. https:\/\/doi.org\/10.1124\/mol.108.049825","journal-title":"Mol Pharmacol"},{"key":"2404_CR54","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1038\/nm.3987","volume":"21","author":"SL Marguet","year":"2015","unstructured":"Marguet SL, Le-Schulte VT, Merseburg A, Neu A, Eichler R, Jakovcevski I, Ivanov A, Hanganu-Opatz IL, Bernard C, Morellini F, Isbrandt D (2015) Treatment during a vulnerable developmental period rescues a genetic epilepsy. Nat Med 21:1436\u20131444. https:\/\/doi.org\/10.1038\/nm.3987","journal-title":"Nat Med"},{"key":"2404_CR55","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1523\/JNEUROSCI.3143-03.2004","volume":"24","author":"M Martire","year":"2004","unstructured":"Martire M, Castaldo P, D'Amico M, Preziosi P, Annunziato L, Taglialatela M (2004) M channels containing KCNQ2 subunits modulate norepinephrine, aspartate, and GABA release from hippocampal nerve terminals. J Neurosci 24:592\u2013597. https:\/\/doi.org\/10.1523\/JNEUROSCI.3143-03.2004","journal-title":"J Neurosci"},{"key":"2404_CR56","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature21062","volume":"542","author":"JF McRae","year":"2017","unstructured":"McRae JF, Clayton S, Fitzgerald TW et al (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542:433\u2013438. https:\/\/doi.org\/10.1038\/nature21062","journal-title":"Nature"},{"key":"2404_CR57","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.nbd.2009.03.009","volume":"34","author":"F Miceli","year":"2009","unstructured":"Miceli F, Soldovieri MV, Lugli L, Bellini G, Ambrosino P, Migliore M, del Giudice EM, Ferrari F, Pascotto A, Taglialatela M (2009) Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiol Dis 34:501\u2013510. https:\/\/doi.org\/10.1016\/j.nbd.2009.03.009","journal-title":"Neurobiol Dis"},{"key":"2404_CR58","doi-asserted-by":"publisher","first-page":"4386","DOI":"10.1073\/pnas.1216867110","volume":"110","author":"F Miceli","year":"2013","unstructured":"Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M (2013) Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. PNAS 110:4386\u20134391. https:\/\/doi.org\/10.1073\/pnas.1216867110","journal-title":"PNAS"},{"key":"2404_CR59","doi-asserted-by":"publisher","first-page":"3782","DOI":"10.1523\/JNEUROSCI.4423-14.2015","volume":"35","author":"F Miceli","year":"2015","unstructured":"Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M (2015) Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci 35:3782\u20133793. https:\/\/doi.org\/10.1523\/JNEUROSCI.4423-14.2015","journal-title":"J Neurosci"},{"key":"2404_CR60","doi-asserted-by":"publisher","first-page":"e15","DOI":"10.1111\/epi.12887","volume":"56","author":"F Miceli","year":"2015","unstructured":"Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S (2015) A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia 56:e15\u2013e20. https:\/\/doi.org\/10.1111\/epi.12887","journal-title":"Epilepsia"},{"key":"2404_CR61","volume-title":"GeneReviews\u00ae [Internet]","author":"F Miceli","year":"2017","unstructured":"Miceli F, Soldovieri MV, Nishtha J et al (2017) KCNQ3-related disorders. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae [Internet]. University of Washington, Seattle"},{"key":"2404_CR62","unstructured":"Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E, Taglialatela M (2018) KCNQ2-related disorders. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae [Internet]. Seattle University of Washington"},{"key":"2404_CR63","doi-asserted-by":"publisher","first-page":"2637","DOI":"10.2174\/0929867324666171012122852","volume":"25","author":"F Miceli","year":"2018","unstructured":"Miceli F, Soldovieri MV, Ambrosino P, Manocchio L, Mosca I, Taglialatela M (2018) Pharmacological targeting of neuronal Kv7.2\/3 channels: a focus on chemotypes and receptor sites. Curr Med Chem 25:2637\u20132660. https:\/\/doi.org\/10.2174\/0929867324666171012122852","journal-title":"Curr Med Chem"},{"key":"2404_CR64","doi-asserted-by":"publisher","first-page":"2314","DOI":"10.1002\/ajmg.a.37152","volume":"167A","author":"M Milh","year":"2015","unstructured":"Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Dieux Coeslier A, Dailland T, Lesca G, Philip N, Villard L (2015) Variable clinical expression in patients with mosaicism for KCNQ2 mutations. Am J Med Genet A 167A:2314\u20132318. https:\/\/doi.org\/10.1002\/ajmg.a.37152","journal-title":"Am J Med Genet A"},{"key":"2404_CR65","doi-asserted-by":"publisher","unstructured":"Milh M, Roubertoux P, Biba N, Chavany J, Spiga Ghata A, Fulachier C, Collins SC, Wagner C, Roux JC, Yalcin B, F\u00e9lix MS, Molinari F, Lenck-Santini PP, Villard L (2020) A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. Epilepsia. https:\/\/doi.org\/10.1111\/epi.16494","DOI":"10.1111\/epi.16494"},{"key":"2404_CR66","doi-asserted-by":"publisher","first-page":"e96","DOI":"10.1212\/NXG.0000000000000096","volume":"2","author":"JJ Millichap","year":"2016","unstructured":"Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC (2016) KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet 2:e96. https:\/\/doi.org\/10.1212\/NXG.0000000000000096","journal-title":"Neurol Genet"},{"key":"2404_CR67","doi-asserted-by":"publisher","first-page":"e10","DOI":"10.1111\/epi.13601","volume":"58","author":"JJ Millichap","year":"2017","unstructured":"Millichap JJ, Miceli F, De Maria M, Keator C, Joshi N, Tran B, Soldovieri MV, Ambrosino P, Shashi V, Mikati MA, Cooper EC, Taglialatela M (2017) Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. Epilepsia 58:e10\u2013e15. https:\/\/doi.org\/10.1111\/epi.13601","journal-title":"Epilepsia"},{"key":"2404_CR68","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1111\/epi.13676","volume":"58","author":"SB Mulkey","year":"2017","unstructured":"Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Gr\u00f8nborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR (2017) Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia 58:436\u2013445. https:\/\/doi.org\/10.1111\/epi.13676","journal-title":"Epilepsia"},{"key":"2404_CR69","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1177\/1073858418763752","volume":"24","author":"Z Niday","year":"2018","unstructured":"Niday Z, Tzingounis AV (2018) Potassium channel gain of function in epilepsy: an unresolved paradox. Neuroscientis 24:368\u2013380. https:\/\/doi.org\/10.1177\/1073858418763752","journal-title":"Neuroscientis"},{"key":"2404_CR70","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/s0920-1211(02)00249-8","volume":"53","author":"M Okada","year":"2003","unstructured":"Okada M, Zhu G, Hirose S, Ito KI, Murakami T, Wakui M, Kaneko S (2003) Age-dependent modulation of hippocampal excitability by KCNQ-channels. Epilepsy Res 53:81\u201394. https:\/\/doi.org\/10.1016\/s0920-1211(02)00249-8","journal-title":"Epilepsy Res"},{"key":"2404_CR71","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1002\/ana.24080","volume":"75","author":"G Orhan","year":"2014","unstructured":"Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, L\u00f6ffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S (2014) Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 75:382\u2013394. https:\/\/doi.org\/10.1002\/ana.24080","journal-title":"Ann Neurol"},{"key":"2404_CR72","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1021\/acs.jmedchem.9b00796","volume":"63","author":"C Ostacolo","year":"2020","unstructured":"Ostacolo C, Miceli F, Di Sarno V, Nappi P, Iraci N, Soldovieri MV, Ciaglia T, Ambrosino P, Vestuto V, Lauritano A, Musella S, Pepe G, Basilicata MG, Manfra M, Perinelli DR, Novellino E, Bertamino A, Gomez-Monterrey IM, Campiglia P, Taglialatela M (2020) Synthesis and pharmacological characterization of conformationally restricted retigabine analogues as novel neuronal Kv7 channel activators. J Med Chem 63:163\u2013185. https:\/\/doi.org\/10.1021\/acs.jmedchem.9b00796","journal-title":"J Med Chem"},{"key":"2404_CR73","doi-asserted-by":"publisher","first-page":"2599","DOI":"10.1523\/JNEUROSCI.4314-05.2006","volume":"26","author":"Z Pan","year":"2006","unstructured":"Pan Z, Kao T, Horvath Z, Lemos J, Sul JY, Cranstoun SD, Bennett V, Scherer SS, Cooper EC (2006) A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 26:2599\u20132613. https:\/\/doi.org\/10.1523\/JNEUROSCI.4314-05.2006","journal-title":"J Neurosci"},{"key":"2404_CR74","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1152\/jn.00634.2006","volume":"97","author":"A Peretz","year":"2007","unstructured":"Peretz A, Sheinin A, Yue C, Degani-Katzav N, Gibor G, Nachman R, Gopin A, Tam E, Shabat D, Yaari Y, Attali B (2007) Pre- and postsynaptic activation of M channels by a novel opener dampens neuronal firing and transmitter release. J Neurophysiol 97:283\u2013295. https:\/\/doi.org\/10.1152\/jn.00634.2006","journal-title":"J Neurophysiol"},{"key":"2404_CR75","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/nn1375","volume":"8","author":"HC Peters","year":"2005","unstructured":"Peters HC, Hu H, Pongs O, Storm JF, Isbrandt D (2005) Conditional transgenic suppression of M channels in mouse brain reveals functionsin neuronal excitability, resonance and behavior. Nat Neurosci 8:51\u201360. https:\/\/doi.org\/10.1038\/nn1375","journal-title":"Nat Neurosci"},{"key":"2404_CR76","unstructured":"Plouin P (1994) Benign familial neonatal convulsions. In: Malafosse A, Hirsch E, Marescaux C, Broglin D, Bernasconi R (ed) Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London John Libbey, p. 39\u201344"},{"key":"2404_CR77","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, R\u00f6pke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schr\u00f6ck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM (2012) Range of genetic mutations associated with severe nonsyndromic sporadic intellectual disability: an exome sequencing study. Lancet 380:1674\u20131682. https:\/\/doi.org\/10.1016\/S0140-6736(12)61480-9","journal-title":"Lancet"},{"key":"2404_CR78","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006586","volume":"4","author":"N Regev","year":"2009","unstructured":"Regev N, Degani-Katzav N, Korngreen A, Etzioni A, Siloni S, Alaimo A, Chikvashvili D, Villarroel A, Attali B, Lotan I (2009) Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity. PLoS One 4:e6586. https:\/\/doi.org\/10.1371\/journal.pone.0006586","journal-title":"PLoS One"},{"key":"2404_CR79","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2404_CR80","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0071809","volume":"8","author":"J Robbins","year":"2013","unstructured":"Robbins J, Passmore GM, Abogadie FC, Reilly JM, Brown DA (2013) Effects of KCNQ2 gene truncation on M-type Kv7 potassium currents. PLoS One 8:e71809. https:\/\/doi.org\/10.1371\/journal.pone.0071809","journal-title":"PLoS One"},{"key":"2404_CR81","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1146\/annurev.physiol.65.092101.142734","volume":"65","author":"RB Robinson","year":"2003","unstructured":"Robinson RB, Sigelbaum SA (2003) Hyperpolarization-activated cation currents: from molecules to physiological function. Annu Rev Physiol 65:453\u2013480. https:\/\/doi.org\/10.1146\/annurev.physiol.65.092101.142734","journal-title":"Annu Rev Physiol"},{"key":"2404_CR82","doi-asserted-by":"publisher","first-page":"103555","DOI":"10.1016\/j.ejmg.2018.10.007","volume":"62","author":"G Rosti","year":"2019","unstructured":"Rosti G, Tassano E, Bossi S, Divizia MT, Ronchetto P, Servetti M, Lerone M, Pisciotta L, Mancardi MM, Veneselli E, Puliti A (2019) Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability. Eur J Med Genet 62:103555. https:\/\/doi.org\/10.1016\/j.ejmg.2018.10.007","journal-title":"Eur J Med Genet"},{"key":"2404_CR83","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1159\/000257425","volume":"24","author":"M Roura-Ferrer","year":"2009","unstructured":"Roura-Ferrer M, Etxebarria A, Sol\u00e9 L, Oliveras A, Comes N, Villarroel A, Felipe A (2009) Functional implications of KCNE subunit expression for the Kv7.5 (KCNQ5) channel. Cell Physiol Biochem 24:325\u2013334. https:\/\/doi.org\/10.1159\/000257425","journal-title":"Cell Physiol Biochem"},{"key":"2404_CR84","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1111\/j.1442-200X.2008.02539.x","volume":"50","author":"AH Sadewa","year":"2008","unstructured":"Sadewa AH, Sasongko TH, Gunadi LMJ, Daikoku K, Yamamoto A, Yamasaki T, Tanaka S, Matsuo M, Nishio H (2008) Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion. Pediatr Int 50:167\u2013171. https:\/\/doi.org\/10.1111\/j.1442-200X.2008.02539.x","journal-title":"Pediatr Int"},{"key":"2404_CR85","doi-asserted-by":"publisher","first-page":"5437","DOI":"10.1113\/jphysiol.2008.156257","volume":"586","author":"VF Safiulina","year":"2008","unstructured":"Safiulina VF, Zacchi P, Taglialatela M, Yaari Y, Cherubini E (2008) Low expression of Kv7\/M channels facilitates intrinsic and network bursting in the developing rat hippocampus. J Physiol 586:5437\u20135453. https:\/\/doi.org\/10.1113\/jphysiol.2008.156257","journal-title":"J Physiol"},{"key":"2404_CR86","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1002\/ana.23620","volume":"72","author":"H Saitsu","year":"2012","unstructured":"Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N (2012) Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 72:298\u2013300. https:\/\/doi.org\/10.1002\/ana.23620","journal-title":"Ann Neurol"},{"key":"2404_CR87","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/ana.25522","volume":"86","author":"TT Sands","year":"2019","unstructured":"Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Sch\u00f6newolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, T\u00fcmer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR (2019) Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol 86:181\u2013192. https:\/\/doi.org\/10.1002\/ana.25522","journal-title":"Ann Neurol"},{"key":"2404_CR88","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/384080a0","volume":"384","author":"MC Sanguinetti","year":"1996","unstructured":"Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384:80\u201383. https:\/\/doi.org\/10.1038\/384080a0","journal-title":"Nature"},{"key":"2404_CR89","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/25367","volume":"396","author":"BC Schroeder","year":"1998","unstructured":"Schroeder BC, Kubisch C, Stein V, Jentsch TJ (1998) Moderate loss of function of cyclic-AMP-modulated KCNQ2\/KCNQ3 K+ channels causes epilepsy. Nature 396:687\u2013690. https:\/\/doi.org\/10.1038\/25367","journal-title":"Nature"},{"key":"2404_CR90","doi-asserted-by":"publisher","first-page":"24089","DOI":"10.1074\/jbc.M003245200","volume":"275","author":"BC Schroeder","year":"2000","unstructured":"Schroeder BC, Hechenberger M, Weinreich F, Kubisch C, Jentsch TJ (2000) KCNQ5, a novel potassium canne broadly expressed in brain, mediates M-type currents. J Biol Chem 275:24089\u201324095. https:\/\/doi.org\/10.1074\/jbc.M003245200","journal-title":"J Biol Chem"},{"key":"2404_CR91","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1007\/s12098-018-2796-8","volume":"86","author":"IK Sharawat","year":"2019","unstructured":"Sharawat IK, Kasinathan A, Sahu JK, Sankhyan N (2019) Response to carbamazepine in KCNQ2 related early infantile epileptic encephalopathy. Indian J Pediatr 86:301\u2013302. https:\/\/doi.org\/10.1007\/s12098-018-2796-8","journal-title":"Indian J Pediatr"},{"key":"2404_CR92","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.nbd.2011.03.016","volume":"43","author":"F Sicca","year":"2011","unstructured":"Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M (2011) Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiol Dis 43:239\u2013247. https:\/\/doi.org\/10.1016\/j.nbd.2011.03.016","journal-title":"Neurobiol Dis"},{"key":"2404_CR93","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng0198-25","volume":"18","author":"NA Singh","year":"1998","unstructured":"Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25\u201329. https:\/\/doi.org\/10.1038\/ng0198-25","journal-title":"Nat Genet"},{"key":"2404_CR94","doi-asserted-by":"publisher","first-page":"2726","DOI":"10.1093\/brain\/awg286","volume":"126","author":"NA Singh","year":"2003","unstructured":"Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF (2003) KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 126:2726\u20132737. https:\/\/doi.org\/10.1093\/brain\/awg286","journal-title":"Brain"},{"key":"2404_CR95","doi-asserted-by":"publisher","first-page":"3405","DOI":"10.1113\/jphysiol.2008.154971","volume":"586","author":"NA Singh","year":"2008","unstructured":"Singh NA, Otto JF, Dahle EJ, Pappas C, Leslie JD, Vilaythong A, Noebels JL, White HS, Wilcox KS, Leppert MF (2008) Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol 586:3405\u20133423. https:\/\/doi.org\/10.1113\/jphysiol.2008.154971","journal-title":"J Physiol"},{"key":"2404_CR96","doi-asserted-by":"publisher","first-page":"5311","DOI":"10.1523\/JNEUROSCI.3919-13.2014","volume":"34","author":"H Soh","year":"2014","unstructured":"Soh H, Pant R, LoTurco JJ, Tzingounis AV (2014) Conditional deletions of epilepsy-associated KCNQ2 and KCNQ3 channels from cerebral cortex cause differential effects on neuronal excitability. J Neurosci 34:5311\u20135321. https:\/\/doi.org\/10.1523\/JNEUROSCI.3919-13.2014","journal-title":"J Neurosci"},{"issue":"7","key":"2404_CR97","doi-asserted-by":"publisher","first-page":"e38617","DOI":"10.7554\/eLife.38617","volume":"1","author":"H Soh","year":"2018","unstructured":"Soh H, Park S, Ryan K, Springer K, Maheshwari A, Tzingounis AV (2018) Deletion of KCNQ2\/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission. Elife 1(7):e38617. https:\/\/doi.org\/10.7554\/eLife.38617","journal-title":"Elife"},{"key":"2404_CR98","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1074\/jbc.M510980200","volume":"281","author":"MV Soldovieri","year":"2006","unstructured":"Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M (2006) Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C-terminus mutation causing benign familial neonatal convulsions. J Biol Chem 281:418\u2013428. https:\/\/doi.org\/10.1074\/jbc.M510980200","journal-title":"J Biol Chem"},{"key":"2404_CR99","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1152\/physiol.00009.2011","volume":"26","author":"MV Soldovieri","year":"2011","unstructured":"Soldovieri MV, Miceli F, Taglialatela M (2011) Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. Physiology (Bethesda) 26:365\u2013376. https:\/\/doi.org\/10.1152\/physiol.00009.2011","journal-title":"Physiology (Bethesda)"},{"issue":"3","key":"2404_CR100","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1002\/humu.22500","volume":"35","author":"MV Soldovieri","year":"2014","unstructured":"Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G (2014) Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat 35(3):356\u2013367. https:\/\/doi.org\/10.1002\/humu.22500","journal-title":"Hum Mutat"},{"key":"2404_CR101","doi-asserted-by":"publisher","first-page":"38167","DOI":"10.1038\/srep38167","volume":"6","author":"MV Soldovieri","year":"2016","unstructured":"Soldovieri MV, Ambrosino P, Mosca I, De Maria M, Moretto E, Miceli F, Alaimo A, Iraci N, Manocchio L, Medoro A, Passafaro M, Taglialatela M (2016) Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate. Sci Rep 6:38167. https:\/\/doi.org\/10.1038\/srep38167","journal-title":"Sci Rep"},{"issue":"14","key":"2404_CR102","doi-asserted-by":"publisher","first-page":"E3382","DOI":"10.3390\/ijms20143382","volume":"20","author":"MV Soldovieri","year":"2019","unstructured":"Soldovieri MV, Ambrosino P, Mosca I, Miceli F, Franco C, Canzoniero LMT, Kline-Fath B, Cooper EC, Venkatesan C, Taglialatela M (2019) Epileptic encephalopathy in a patient with a novel variant in the Kv7.2 S2 Transmembrane segment: clinical, genetic, and functional features. Int J Mol Sci 20(14):E3382. https:\/\/doi.org\/10.3390\/ijms20143382","journal-title":"Int J Mol Sci"},{"key":"2404_CR103","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.ejphar.2013.05.005","volume":"715","author":"J Sval\u00f8","year":"2013","unstructured":"Sval\u00f8 J, Bille M, Parameswaran Theepakaran N, Sheykhzade M, Nordling J, Bouchelouche P (2013) Bladder contractility is modulated by Kv7 channels in pig detrusor. Eur J Pharmacol 715:312\u2013320. https:\/\/doi.org\/10.1016\/j.ejphar.2013.05.005","journal-title":"Eur J Pharmacol"},{"key":"2404_CR104","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/s0014-5793(98)01296-4","volume":"438","author":"N Tinel","year":"1998","unstructured":"Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M (1998) The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett 438:171\u2013176. https:\/\/doi.org\/10.1016\/s0014-5793(98)01296-4","journal-title":"FEBS Lett"},{"key":"2404_CR105","doi-asserted-by":"publisher","first-page":"e88549","DOI":"10.1371\/journal.pone.0088549","volume":"9","author":"Y Tomonoh","year":"2019","unstructured":"Tomonoh Y, Deshimaru M, Araki K, Miyazaki Y, Arasaki T, Tanaka Y, Kitamura H, Mori F, Wakabayashi K, Yamashita S, Saito R, Itoh M, Uchida T, Yamada J, Migita K, Ueno S, Kitaura H, Kakita A, Lossin C, Takano Y, Hirose S (2019) The kick-in system: a novel rapid knock-in strategy. PLoS One 2014 9:e88549. https:\/\/doi.org\/10.1371\/journal.pone.0088549","journal-title":"PLoS One 2014"},{"key":"2404_CR106","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1007\/s11910-011-0195-x","volume":"11","author":"R Tuchman","year":"2011","unstructured":"Tuchman R, Cuccaro M (2011) Epilepsy and autism: neurodevelopmental perspective. Curr Neurol Neurosci Rep 11:428\u2013434. https:\/\/doi.org\/10.1007\/s11910-011-0195-x","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2404_CR107","doi-asserted-by":"publisher","first-page":"19974","DOI":"10.1073\/pnas.0810535105","volume":"105","author":"AV Tzingounis","year":"2008","unstructured":"Tzingounis AV, Nicoll RA (2008) Contribution of KCNQ2 and KCNQ3 to the medium and slow after hyperpolarizationcurrents. PNAS 105:19974\u201319979. https:\/\/doi.org\/10.1073\/pnas.0810535105","journal-title":"PNAS"},{"key":"2404_CR108","doi-asserted-by":"publisher","first-page":"10232","DOI":"10.1073\/pnas.1004644107","volume":"107","author":"AV Tzingounis","year":"2010","unstructured":"Tzingounis AV, Heidenreich M, Kharkovets T, Spitzmaul G, Jensen HS, Nicoll RA, Jentsch TJ (2010) The KCNQ5 potassium channel mediates a component of the after hyperpolarization current in mouse hippocampus. PNAS 107:10232\u201310237. https:\/\/doi.org\/10.1073\/pnas.1004644107","journal-title":"PNAS"},{"key":"2404_CR109","doi-asserted-by":"publisher","first-page":"2717","DOI":"10.1016\/j.jmb.2014.05.016","volume":"426","author":"A Villarroel","year":"2014","unstructured":"Villarroel A, Taglialatela M, Bernardo-Seisdedos G, Alaimo A, Agirre J, Alberdi A, Gomis-Perez C, Soldovieri MV, Ambrosino P, Malo C, Areso P (2014) The ever changing moods of calmodulin: how structural plasticity entails transductional adaptability. J Mol Biol 426:2717\u20132735. https:\/\/doi.org\/10.1016\/j.jmb.2014.05.016","journal-title":"J Mol Biol"},{"key":"2404_CR110","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/ng0196-17","volume":"12","author":"Q Wang","year":"1996","unstructured":"Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17\u201323. https:\/\/doi.org\/10.1038\/ng0196-17","journal-title":"Nat Genet"},{"key":"2404_CR111","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1046\/j.1471-4159.2000.0750028.x","volume":"75","author":"H Watanabe","year":"2000","unstructured":"Watanabe H, Nagata E, Kosakai A, Nakamura M, Yokoyama M, Tanaka K, Sasai H (2000) Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability. J Neurochem 75:28\u201333. https:\/\/doi.org\/10.1046\/j.1471-4159.2000.0750028.x","journal-title":"J Neurochem"},{"key":"2404_CR112","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.brainres.2006.01.023","volume":"1077","author":"YG Weber","year":"2006","unstructured":"Weber YG, Geiger J, K\u00e4mpchen K, Landwehrmeyer B, Sommer C, Lerche H (2006) Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain. Brain ResMar 1077:1\u20136. https:\/\/doi.org\/10.1016\/j.brainres.2006.01.023","journal-title":"Brain ResMar"},{"key":"2404_CR113","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/ana.22644","volume":"71","author":"S Weckhuysen","year":"2012","unstructured":"Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71:15\u201325. https:\/\/doi.org\/10.1002\/ana.22644","journal-title":"Ann Neurol"},{"key":"2404_CR114","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1212\/01.wnl.0000435296.72400.a1","volume":"81","author":"S Weckhuysen","year":"2013","unstructured":"Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, M\u00f8ller RS, Gr\u00f8nborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P (2013) Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 81:1697\u20131703. https:\/\/doi.org\/10.1212\/01.wnl.0000435296.72400.a1","journal-title":"Neurology"},{"key":"2404_CR115","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1212\/01.wnl.0000275523.95103.36","volume":"69","author":"TV Wuttke","year":"2007","unstructured":"Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H (2007) Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology 69:2045\u20132053. https:\/\/doi.org\/10.1212\/01.wnl.0000275523.95103.36","journal-title":"Neurology"},{"key":"2404_CR116","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1093\/hmg\/ddg118","volume":"12","author":"Y Yang","year":"2003","unstructured":"Yang Y, Beyer BJ, Otto JF, O'Brien TP, Letts VA, White HS, Frankel WN (2003) Spontaneous deletion of epilepsygene orthologs in a mutant mouse with a low electroconvulsive threshold. Hum Mol Genet 12:975\u2013984. https:\/\/doi.org\/10.1093\/hmg\/ddg118","journal-title":"Hum Mol Genet"},{"key":"2404_CR117","doi-asserted-by":"publisher","first-page":"28545","DOI":"10.1074\/jbc.M204130200","volume":"277","author":"E Yus-N\u00e1jera","year":"2002","unstructured":"Yus-N\u00e1jera E, Santana-Castro I, Villarroel A (2002) The identification and characterization of a non continuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels. J Biol Chem 277:28545\u201328553. https:\/\/doi.org\/10.1074\/jbc.M204130200","journal-title":"J Biol Chem"},{"key":"2404_CR118","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1111\/epi.12089","volume":"54","author":"F Zara","year":"2013","unstructured":"Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C (2013) Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 54:425\u2013436. https:\/\/doi.org\/10.1111\/epi.12089","journal-title":"Epilepsia"},{"key":"2404_CR119","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1016\/j.neuron.2012.10.019","volume":"76","author":"J Zhang","year":"2012","unstructured":"Zhang J, Shapiro M (2012) Activity-dependent transcriptional regulation of M-type (Kv7) K+ channels by AKAP79\/150-mediated NFAT actions. Neuron 76:1133\u20131146. https:\/\/doi.org\/10.1016\/j.neuron.2012.10.019","journal-title":"Neuron"},{"key":"2404_CR120","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1016\/S0896-6273(03)00125-9","volume":"37","author":"H Zhang","year":"2003","unstructured":"Zhang H, Craciun LC, Mirshahi T, Roh\u00e1cs T, Lopes CMB, Jin T, Logothetis DE (2003) PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currents. Neuron 37:963\u2013975. https:\/\/doi.org\/10.1016\/S0896-6273(03)00125-9","journal-title":"Neuron"},{"key":"2404_CR121","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1007\/s00431-006-0157-5","volume":"165","author":"X Zhou","year":"2006","unstructured":"Zhou X, Ma A, Liu X, Huang C, Zhang Y, Shi R, Mao S, Geng T, Li S (2006) Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. Eur J Pediatr 165:691\u2013695. https:\/\/doi.org\/10.1007\/s00431-006-0157-5","journal-title":"Eur J Pediatr"}],"container-title":["Pfl\u00fcgers Archiv - European Journal of Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00424-020-02404-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00424-020-02404-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00424-020-02404-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T19:31:21Z","timestamp":1622921481000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00424-020-02404-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,6]]},"references-count":121,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["2404"],"URL":"https:\/\/doi.org\/10.1007\/s00424-020-02404-2","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.738110474.793579757","asserted-by":"object"}]},"ISSN":["0031-6768","1432-2013"],"issn-type":[{"value":"0031-6768","type":"print"},{"value":"1432-2013","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,6]]},"assertion":[{"value":"26 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}