{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T23:50:37Z","timestamp":1780444237853,"version":"3.54.1"},"reference-count":165,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T00:00:00Z","timestamp":1606262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Milano-Bicocca","award":["2019-ATESP-0029"],"award-info":[{"award-number":["2019-ATESP-0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Sleep-related hypermotor epilepsy (SHE) is characterized by hyperkinetic focal seizures, mainly arising in the neocortex during non-rapid eye movements (NREM) sleep. The familial form is autosomal dominant SHE (ADSHE), which can be caused by mutations in genes encoding subunits of the neuronal nicotinic acetylcholine receptor (nAChR), Na+-gated K+ channels, as well as non-channel signaling proteins, such as components of the gap activity toward rags 1 (GATOR1) macromolecular complex. The causative genes may have different roles in developing and mature brains. Under this respect, nicotinic receptors are paradigmatic, as different pathophysiological roles are exerted by distinct nAChR subunits in adult and developing brains. The widest evidence concerns \u03b14 and \u03b22 subunits. These participate in heteromeric nAChRs that are major modulators of excitability in mature neocortical circuits as well as regulate postnatal synaptogenesis. However, growing evidence implicates mutant \u03b12 subunits in ADSHE, which poses interpretive difficulties as very little is known about the function of \u03b12-containing (\u03b12*) nAChRs in the human brain. Planning rational therapy must consider that pharmacological treatment could have different effects on synaptic maturation and adult excitability. We discuss recent attempts towards precision medicine in the mature brain and possible approaches to target developmental stages. These issues have general relevance in epilepsy treatment, as the pathogenesis of genetic epilepsies is increasingly recognized to involve developmental alterations.<\/jats:p>","DOI":"10.3390\/brainsci10120907","type":"journal-article","created":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T08:59:15Z","timestamp":1606294755000},"page":"907","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9297-0527","authenticated-orcid":false,"given":"Andrea","family":"Becchetti","sequence":"first","affiliation":[{"name":"Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8174-5394","authenticated-orcid":false,"given":"Laura Clara","family":"Grandi","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7704-7446","authenticated-orcid":false,"given":"Giulia","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Meneghini","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alida","family":"Amadeo","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milano, 20133 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1111\/epi.13670","article-title":"Operational classification of seizure types by the International League Against Epilepsy: Position paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Fisher","year":"2017","journal-title":"Epilepsia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1111\/epi.13201","article-title":"Epilepsy priorities in Europe: A report of the ILAE-IBE Epilepsy Advocacy Europe Task Force","volume":"56","author":"Baulac","year":"2015","journal-title":"Epilepsia"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Baumgartner, C., Koren, J.P., Britto-Arias, M., Zoche, L., and Pirker, S. (2019). Presurgical epilepsy evaluation and epilepsy surgery. F1000Research, 8.","DOI":"10.12688\/f1000research.17714.1"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"ref_5","first-page":"27","article-title":"The genetics of epilepsy","volume":"10","author":"Perucca","year":"2020","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1085\/jgp.201711759","article-title":"Precision physiology and rescue of brain ion channel disorders","volume":"149","author":"Noebels","year":"2017","journal-title":"J. Gen. Physiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1212\/WNL.0b013e318204a36a","article-title":"Estimating risk for developing epilepsy: A population-based study in Rochester, Minnesota","volume":"76","author":"Hesdorffer","year":"2011","journal-title":"Neurology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/ana.410020105","article-title":"Episodic nocturnal wanderings responsive to anticonvulsant drug therapy","volume":"2","author":"Pedley","year":"1977","journal-title":"Ann. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1093\/sleep\/4.2.129","article-title":"Hypnogenic paroxysmal dystonia: Epileptic seizure or a new syndrome?","volume":"4","author":"Lugaresi","year":"1981","journal-title":"Sleep"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1528-1157.1990.tb06105.x","article-title":"Nocturnal paroxysmal dystonia with short-lasting attacks: Three cases with evidence for an epileptic frontal lobe origin of seizures","volume":"31","author":"Tinuper","year":"1990","journal-title":"Epilepsia"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1093\/brain\/118.1.61","article-title":"Autosomal dominant nocturnal frontal lobe epilepsy. A distinct clinical disorder","volume":"118","author":"Scheffer","year":"1995","journal-title":"Brain"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1212\/WNL.0000000000002666","article-title":"Definition and diagnostic criteria of sleep-related hypermotor epilepsy","volume":"86","author":"Tinuper","year":"2016","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"317","DOI":"10.2147\/NSS.S152624","article-title":"Sleep-related hypermotor epilepsy: Prevalence, impact and management strategies","volume":"10","author":"Menghi","year":"2018","journal-title":"Nat. Sci. Sleep"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.yebeh.2008.11.003","article-title":"Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors","volume":"14","author":"Picard","year":"2009","journal-title":"Epilepsy Behav."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1124\/pr.117.014456","article-title":"Ion channels in genetic epilepsy: From genes and mechanisms to disease-targetd therapies","volume":"70","author":"Oyrer","year":"2018","journal-title":"Pharmacol. Rev."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1093\/brain\/awl322","article-title":"Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy","volume":"130","author":"Nobili","year":"2007","journal-title":"Brain"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1212\/WNL.0000000000003459","article-title":"Sleep-related hypermotor epilepsy. Long-term outcome in a large cohort","volume":"88","author":"Licchetta","year":"2017","journal-title":"Neurology"},{"key":"ref_18","unstructured":"Engel, J., and Pedley, T.A. (2008). Familial frontal lobe epilepsies. Epilepsy. A Comprehensive Textbook, Lippincott Williams and Wilkins."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/B978-0-444-63326-2.00001-6","article-title":"Genetic heterogeneity in familial nocturnal frontal lobe epilepsy","volume":"213","author":"Steinlein","year":"2014","journal-title":"Prog. Brain Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/s41386-019-0444-2","article-title":"Arousal and sleep circuits","volume":"45","author":"Jones","year":"2020","journal-title":"Neuropsychopharmacology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/0306-4522(84)90234-3","article-title":"Choline acetyltransferase-immunoreactive neurons intrinsic to rodent cortex and distinction from acetylcholinesterase-positive neurons","volume":"13","author":"Levey","year":"1984","journal-title":"Neuroscience"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Consonni, S., Leone, S., Becchetti, A., and Amadeo, A. (2009). Developmental and neurochemical features of cholinergic neurons in the murine cerebral cortex. BMC Neurosci., 10.","DOI":"10.1186\/1471-2202-10-18"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.neuron.2012.08.036","article-title":"Acetylcholine as a neuromodulator: Cholinergic signaling shape nervous system function and behavior","volume":"76","author":"Picciotto","year":"2012","journal-title":"Neuron"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1152\/physrev.00015.2008","article-title":"Mammalian nicotinic acetylcholine receptors: From structure to function","volume":"89","author":"Albuquerque","year":"2009","journal-title":"Physiol. Rev."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"108256","DOI":"10.1016\/j.neuropharm.2020.108256","article-title":"Nicotinic acetylcholine receptors and nicotine addiction: A brief introduction","volume":"177","author":"Wittenberg","year":"2020","journal-title":"Neuropharmacology"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ceca.2003.08.006","article-title":"Ca2+ permeability of nicotinic acetylcholine receptors","volume":"35","author":"Fucile","year":"2004","journal-title":"Cell Calcium"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.tins.2005.04.009","article-title":"Desensitization of nicotinic ACh receptors: Shaping cholinergic signaling","volume":"28","author":"Giniatullin","year":"2005","journal-title":"Trends Neurosci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1124\/mol.63.2.332","article-title":"Alternate stoichiometries of alpha4beta2 nicotinic acetylcholine receptors","volume":"63","author":"Nelson","year":"2003","journal-title":"Mol. Pharmacol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/380347a0","article-title":"Functional contributions of \u03b15 subunit to neuronal acetylcholine receptor channels","volume":"380","author":"Yu","year":"1996","journal-title":"Nature"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/S0166-2236(96)10073-4","article-title":"Presynaptic nicotinic ACh receptors","volume":"20","author":"Wonnacott","year":"1997","journal-title":"Trends Neurosci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.bcp.2007.05.023","article-title":"Heterogeneity and complexity of native brain nicotinic receptors","volume":"71","author":"Gotti","year":"2007","journal-title":"Biochem. Pharmacol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"9241","DOI":"10.1523\/JNEUROSCI.2258-10.2010","article-title":"The nicotinic acetylcholine receptor \u03b15 subunit plays a key role in attention circuitry and accuracy","volume":"30","author":"Bailey","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Hilscher, M.M., Le\u00e3o, R.N., Edwards, S.J., Le\u00e3o, K.E., and Kullander, K. (2017). Chrna2-Martinotti cells synchronize layer 5 type A pyramidal cells via rebound excitation. PLoS Biol., 15.","DOI":"10.1371\/journal.pbio.2001392"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.neuropharm.2014.11.003","article-title":"Diversity of native nicotinic receptor subtypes in mammalian brain","volume":"96","author":"Zoli","year":"2015","journal-title":"Neuropharmacology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/1096-9861(20000911)425:1<58::AID-CNE6>3.0.CO;2-X","article-title":"Localization of nicotinic receptor subunit mRNAs in monkey brain by in situ hybridization","volume":"425","author":"Quik","year":"2000","journal-title":"J. Comp. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"3664","DOI":"10.1046\/j.1460-9568.2000.00262.x","article-title":"Localization of nAChR subunit mRNAs in the brain of Macaca mulatta","volume":"12","author":"Han","year":"2000","journal-title":"Eur. J. Neurosci."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/cne.20762","article-title":"Comparison of \u03b12 nicotinic acetylcholine receptor subunit mRNA expression in the central nervous system of rats and mice","volume":"493","author":"Ishii","year":"2005","journal-title":"J. Comp. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.jchemneu.2006.09.001","article-title":"Postnatal expression of \u03b12 nicotinic acetylcholine receptor subunit mRNA in developing cortex and hippocampus","volume":"32","author":"Son","year":"2006","journal-title":"J. Chem. Neuroanat."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/978-1-4419-6066-5_2","article-title":"Introduction to ion channels","volume":"674","author":"Becchetti","year":"2010","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0896-6273(03)00322-2","article-title":"Modulation of presynaptic store calcium induces release of glutamate and postsynaptic firing","volume":"38","author":"Sharma","year":"2003","journal-title":"Neuron"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1093\/cercor\/bhr390","article-title":"Layer-specific modulation of the prefrontal cortex by nicotinic acetylcholine receptors","volume":"23","author":"Poorthuis","year":"2013","journal-title":"Cereb. Cortex"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1523\/JNEUROSCI.1305-19.2019","article-title":"Forebrain cholinergic signaling: Wired and phasic, not tonic, and causing behavior","volume":"40","author":"Sarter","year":"2020","journal-title":"J. Neurosci."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1523\/JNEUROSCI.1306-19.2019","article-title":"Diverse spatiotemporal scales of cholinergic signaling in the neocortex","volume":"40","author":"Disney","year":"2020","journal-title":"J. Neurosci."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1021\/cn500319m","article-title":"Interpreting chemical neurotransmission in vivo: Techniques, time scales, and theories","volume":"6","author":"Sarter","year":"2015","journal-title":"ACS Chem. Neurosci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng1095-201","article-title":"A missense mutation in the neuronal nicotinic acetylcholine receptor \u03b14 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy","volume":"11","author":"Steinlein","year":"1995","journal-title":"Nat. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/81566","article-title":"the nicotinic receptor \u03b22 subunit is mutant in nocturnal frontal lobe epilepsy","volume":"26","author":"Becchetti","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1086\/316946","article-title":"CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy","volume":"68","author":"Phillips","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"22","DOI":"10.3389\/fphys.2015.00022","article-title":"The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy","volume":"6","author":"Becchetti","year":"2015","journal-title":"Front. Physiol."},{"key":"ref_49","first-page":"116","article-title":"Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy","volume":"22","author":"Langenbruch","year":"2020","journal-title":"Epileptic Disord."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1017\/cjn.2020.126","article-title":"Variants in CHRNB2 and CHRNA4 identified in patients with insular epilepsy","volume":"47","author":"Meneghini","year":"2020","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"102840","DOI":"10.1016\/j.ebiom.2020.102840","article-title":"Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population","volume":"57","author":"Shi","year":"2020","journal-title":"EBioMedicine"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"e1264","DOI":"10.1002\/mgg3.1264","article-title":"Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine","volume":"8","author":"Neng","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"3626","DOI":"10.1093\/hmg\/ddp311","article-title":"Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance","volume":"18","author":"Dibbens","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"9165","DOI":"10.1523\/JNEUROSCI.17-23-09165.1997","article-title":"Mice deficient in the \u03b17 neuronal nicotinic acetylcholine receptor lack \u03b1-bungarotoxin binding sites and hippocampal fast nicotinic currents","volume":"17","author":"Saeki","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"39941","DOI":"10.1038\/srep39941","article-title":"Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes","volume":"7","author":"Yin","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s00424-009-0766-8","article-title":"Nicotinic receptors channelopathies and epilepsy","volume":"460","author":"Steinlein","year":"2010","journal-title":"Pfl\u00fcgers Arch."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0987-7053(02)00294-0","article-title":"Mutations of the neuronal nicotinic acetylcholine receptors and their association with ADNFLE","volume":"32","author":"Itier","year":"2002","journal-title":"Neurophysiol. Clin."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1124\/mol.107.044545","article-title":"Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore","volume":"74","author":"Hoda","year":"2008","journal-title":"Mol. Pharmacol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1124\/mol.108.054494","article-title":"Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy","volume":"75","author":"Son","year":"2009","journal-title":"Mol. Pharmacol."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Nichols, W.A., Henderson, B.J., Marotta, C.B., Yu, C.Y., Richards, C., Dougherty, D.A., Lester, H.A., and Cohen, B.N. (2016). Mutation linked to autosomal dominant nocturnal frontal lobe epilepsy reduces low-sensitivity \u03b14\u03b22, and increases \u03b15\u03b14\u03b22, nicotinic receptor surface expression. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0158032"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.phrs.2018.11.031","article-title":"Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stoichiometry","volume":"139","author":"Indurthi","year":"2019","journal-title":"Pharmacol. Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1093\/brain\/awl156","article-title":"Alteration of the in vivo nicotinic receptor density in ADNFLE patients: A PET study","volume":"129","author":"Picard","year":"2006","journal-title":"Brain"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"19152","DOI":"10.1073\/pnas.0608215103","article-title":"Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy","volume":"103","author":"Klaassen","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"10128","DOI":"10.1523\/JNEUROSCI.3042-07.2007","article-title":"Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation","volume":"27","author":"Teper","year":"2007","journal-title":"J. Neurosci."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1093\/hmg\/ddp004","article-title":"Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis","volume":"18","author":"Manfredi","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/mp.2010.78","article-title":"Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the \u03b22 nicotinic receptor","volume":"16","author":"Xu","year":"2011","journal-title":"Mol. Psychiatry"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.pbb.2012.10.014","article-title":"Mice expressing the ADNFLE valine 287 leucine mutation of the \u03b22 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function","volume":"103","author":"Laverty","year":"2013","journal-title":"Pharmacol. Biochem. Behav."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"12465","DOI":"10.1523\/JNEUROSCI.2961-08.2008","article-title":"Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype","volume":"28","author":"Zhu","year":"2008","journal-title":"J. Neurosci."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.neures.2015.06.003","article-title":"Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the \u03b22-subunit of the nicotinic acetylcholine receptor","volume":"100","author":"Shiba","year":"2015","journal-title":"Neurosci. Res."},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Fukuyama, K., and Okada, M. (2020). Age-dependent and sleep\/seizure-induced pathomechanisms of autosomal dominant sleep-related hypermotor epilepsy. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21218142"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.neuroscience.2018.06.030","article-title":"Postnatal changes in K+\/Cl- cotransporter-2 expression in the forebrain of mice bearing a mutant nicotinic subunit linked to sleep-related epilepsy","volume":"386","author":"Amadeo","year":"2018","journal-title":"Neuroscience"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1086\/506459","article-title":"Increased sensitivity of the neuronal nicotinic receptor \u03b12 subunit causes familial epilepsy with nocturnal wandering and ictal fear","volume":"79","author":"Aridon","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1016\/j.febslet.2009.04.024","article-title":"Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene","volume":"583","author":"Hoda","year":"2009","journal-title":"FEBS Lett."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"3014","DOI":"10.1523\/JNEUROSCI.4934-08.2009","article-title":"Nicotinic receptors in the habenulo-interpeduncular system are necessary for nicotine withdrawal in mice","volume":"29","author":"Salas","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1111\/j.1460-9568.2009.06706.x","article-title":"\u03b12 nicotine receptors function as a molecular switch to continuously excite a subset of interneurons in rat hippocampal circuits","volume":"29","author":"Jia","year":"2009","journal-title":"Eur. J. Neurosci."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"32","DOI":"10.3389\/fncel.2018.00032","article-title":"Electrophysiological and morphological characterization of Chrna2 cells in the subiculum and CA1 of the hippocampus: An optogenetic investigation","volume":"12","author":"Nichol","year":"2018","journal-title":"Front. Cell. Neurosci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/cne.23754","article-title":"The \u03b12-subunit of the nicotinic cholinergic receptor is specifically expressed in medial subpallium-derived cells of mammalian amygdala","volume":"523","author":"Pombero","year":"2010","journal-title":"J. Comp. Neurol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.neulet.2007.06.006","article-title":"A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely","volume":"422","author":"Gu","year":"2007","journal-title":"Neurosci. Lett."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.sleep.2007.11.010","article-title":"CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients","volume":"10","author":"Combi","year":"2009","journal-title":"Sleep Med."},{"key":"ref_80","first-page":"9063","article-title":"Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy","volume":"8","author":"Chen","year":"2015","journal-title":"Int. J. Clin. Exp. Med."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1212\/WNL.0000000000001471","article-title":"Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function","volume":"84","author":"Conti","year":"2015","journal-title":"Neurology"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3389\/fnmol.2019.00017","article-title":"CHRNA2 and nocturnal frontal lobe epilepsy: Identification and characterization of a novel loss of function mutation","volume":"12","author":"Villa","year":"2019","journal-title":"Front. Mol. Neurosci."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"7728","DOI":"10.1523\/JNEUROSCI.4731-12.2013","article-title":"Targeted deletion of the mouse \u03b12 nicotinic acetylcholine receptor subunit gene (Chrna2) potentiates nicotine-modulated behaviors","volume":"33","author":"Lotfipour","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.neubiorev.2014.05.012","article-title":"The role of nicotinic receptors in shaping and functioning of the glutamatergic system: A window into cognitive pathology","volume":"46","author":"Molas","year":"2014","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1111\/epi.12967","article-title":"Mutation of CHRNA 2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy","volume":"56","author":"Trivisano","year":"2015","journal-title":"Epilepsia"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1038\/s41593-019-0416-1","article-title":"Genome-wide association study implicates CHRNA2 in cannabis use disorder","volume":"22","author":"Demontis","year":"2019","journal-title":"Nat. Neurosci."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/s00439-013-1398-9","article-title":"Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations","volume":"133","author":"Wang","year":"2014","journal-title":"Hum. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/sj.ejhg.5200646","article-title":"Genetic association studies of schizophrenia using the 8p21-22 genes: Prepronociceptin (PNOC), neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1)","volume":"9","author":"Blaveri","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.psychres.2005.04.004","article-title":"No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder","volume":"135","author":"Lohoff","year":"2005","journal-title":"Psychiatry Res."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/1096-8628(20010108)105:1<20::AID-AJMG1047>3.0.CO;2-C","article-title":"Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the \u03b17-nicotinic acetylcholine receptor subunit gene (CHRNA7)","volume":"105","author":"Freedman","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1111\/j.1399-5618.2011.00961.x","article-title":"Hippocampal \u03b17 nicotinic acetylcholine receptor levels in patients with schizophrenia, bipolar disorder, or major depressive disorder","volume":"13","author":"Thomsen","year":"2011","journal-title":"Bipolar Disord."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.schres.2016.01.020","article-title":"nAChR dysfunction as a common substrate for schizophrenia and comorbid nicotine addiction: Current trends and perspectives","volume":"171","author":"Parikh","year":"2016","journal-title":"Schizophrenia Res."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1515\/CCLM.2008.230","article-title":"Association of CHRNA2 polymorphisms with overweight\/obesity and clinical characteristics in a Korean population","volume":"46","author":"Kim","year":"2008","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.devcel.2020.05.017","article-title":"Adrenergic-Independent Signaling via CHRNA2 Regulates Beige Fat Activation","volume":"54","author":"Jun","year":"2020","journal-title":"Dev. Cell"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/acn3.224","article-title":"PRIMA1 mutation: A new cause of nocturnal frontal lobe epilepsy","volume":"2","author":"Hildebrand","year":"2015","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0896-6273(01)00584-0","article-title":"PRiMA: The membrane anchor of acetylcholinesterase in the brain","volume":"33","author":"Perrier","year":"2002","journal-title":"Neuron"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1111\/j.1471-4159.2012.07856.x","article-title":"Near-complete adaptation of the PRiMA knockout to the lack of central acetylcholinesterase","volume":"122","author":"Farar","year":"2012","journal-title":"J. Neurochem."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1038\/ng.2440","article-title":"Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy","volume":"44","author":"Heron","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/ng.2441","article-title":"De novo gain-of function KCNT1 channel mutations cause malignant migrating partial seizures of infancy","volume":"44","author":"Barcia","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/ana.24128","article-title":"KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine","volume":"75","author":"Milligan","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1136\/jmedgenet-2016-103883","article-title":"GATOR1 complex: The common genetic actor in focal epilepsies","volume":"53","author":"Baldassari","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1038\/ng.2599","article-title":"Mutations in DEPDC5 cause familial focal epilepsy with variable foci","volume":"45","author":"Dibbens","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/ng.2601","article-title":"Mutations of DEPDC5 cause autosomal dominant focal epilepsies","volume":"45","author":"Ishida","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/ana.24127","article-title":"DEPDC5 mutations in genetic focal epilepsies of childhood","volume":"75","author":"Lal","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1212\/WNL.0000000000000488","article-title":"DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy","volume":"82","author":"Picard","year":"2014","journal-title":"Neurology"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1002\/ana.24126","article-title":"Mutations in mammalian target of rapamycin regulator DEPD5 cause focal epilepsy with brain malformations","volume":"75","author":"Scheffer","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ana.24547","article-title":"Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy","volume":"79","author":"Ricos","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41436-018-0060-2","article-title":"The landscape of epilepsy-related GATOR1 variants","volume":"21","author":"Baldassari","year":"2019","journal-title":"Genet. Med."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11940-020-0610-1","article-title":"Therapy in sleep-related hypermotor epilepsy (SHE)","volume":"22","author":"Asioli","year":"2020","journal-title":"Curr. Treat. Options Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"78940","DOI":"10.18632\/oncotarget.20694","article-title":"Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy","volume":"8","author":"Chen","year":"2017","journal-title":"Oncotarget"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/ana.20660","article-title":"Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene","volume":"58","author":"Combi","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_112","unstructured":"Gallelli, L. (2013). Effect of carbamazepine and related compounds on ligand-gated ion channels: Possible implications for synaptic transmission and side effects. Carbamazepine. Medical Uses, Pharmacokinetics and Adverse Effects, Nova Science Publishers, Inc."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"107966","DOI":"10.1016\/j.neuropharm.2020.107966","article-title":"Mechanisms of action of currently used antiseizure drugs","volume":"168","author":"Sills","year":"2020","journal-title":"Neuropharmacology"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ana.410250302","article-title":"Differential regulation of gamma-aminobutyric acid receptor channels by diazepam and phenobarbital","volume":"25","author":"Twyman","year":"1989","journal-title":"Ann. Neurol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1152\/jn.1998.79.1.240","article-title":"Pharmacological properties of T-type Ca2+ current in adult rat sensory neurons: Effects of anticonvulsant and anesthetic agents","volume":"79","author":"Todorovic","year":"1998","journal-title":"J. Neurophysiol."},{"key":"ref_116","first-page":"1058","article-title":"Anesthetics produce subunit-selective actions on glutamate receptors","volume":"276","author":"Eger","year":"1996","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1002\/ana.24520","article-title":"Quinidine in the treatment of KCNT1-positive epilepsies","volume":"78","author":"Mikati","year":"2015","journal-title":"Ann Neurol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1212\/WNL.0000000000004769","article-title":"Precision therapy for epilepsy due to KCNT1 mutations","volume":"90","author":"Mullen","year":"2018","journal-title":"Neurology"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1007\/s13311-019-00739-y","article-title":"Treatment responsiveness in KCNT1-related epilepsy","volume":"16","author":"Fitzgerald","year":"2019","journal-title":"Neurotherapeutics"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"101100","DOI":"10.1016\/j.isci.2020.101100","article-title":"Structure-based identification and characterization of inhibitors of the epilepsy-associated KNa1.1 (KCNT1) potassium channel","volume":"23","author":"Cole","year":"2020","journal-title":"iScience"},{"key":"ref_121","first-page":"727","article-title":"Carbamazepine and 10\u201311 epoxicarbamazepine produce use- and voltage-dependent limitation of rapidly firing action potentials of mouse central neurons in cell culture","volume":"238","author":"McLean","year":"1986","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1111\/j.1528-1157.1999.tb00848.x","article-title":"Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine","volume":"40","author":"Picard","year":"1999","journal-title":"Epilepsia"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ejphar.2010.05.063","article-title":"Effect of carbamazepine and oxcarbazepine on wild type and mutant neuronal nicotinic receptors linked to nocturnal frontal lobe epilepsy","volume":"643","author":"Ambrosi","year":"2010","journal-title":"Eur. J. Pharmacol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.pediatrneurol.2007.06.013","article-title":"Oxcarbazepine in children with nocturnal frontal-lobe epilepsy","volume":"37","author":"Raju","year":"2007","journal-title":"Pediatr. Neurol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.pediatrneurol.2008.07.015","article-title":"Oxcarbazepine in children with nocturnal frontal-lobe epilepsy: A further interesting report","volume":"39","author":"Romigi","year":"2008","journal-title":"Pediatr. Neurol."},{"key":"ref_126","first-page":"CD001031","article-title":"Lamotrigine versus carbamazepine monotherapy for epilepsy: An individual participant data review","volume":"2018","author":"Nevitt","year":"2018","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1111\/j.1528-1157.1994.tb05938.x","article-title":"Clinical pharmacology and pharmacokinetics of oxcarbazepine","volume":"35","author":"Lloyd","year":"1994","journal-title":"Epilepsia"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"S37","DOI":"10.1111\/j.1528-1157.1999.tb00918.x","article-title":"Oxcarbazepine","volume":"40","author":"Tecoma","year":"1999","journal-title":"Epilepsia"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1017\/S1461145707008346","article-title":"The synergistic inhibitory actions of oxcarbazepine on voltage-gated sodium and potassium currents in differentiated NG108-15 neuronal cells and model neurons","volume":"11","author":"Huang","year":"2008","journal-title":"Int. J. Neuropsychopharmacol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1124\/jpet.110.171108","article-title":"The anticonvulsive drug lamotrigine blocks neuronal \u03b14\u03b22 nicotinic acetylcholine receptors","volume":"335","author":"Zheng","year":"2010","journal-title":"J. Pharm. Exp. Ther."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1046\/j.1528-1157.2003.58102.x-i1","article-title":"Nicotine as anti-epileptic agent in ADNFLE: An N-of-one study","volume":"44","author":"Willoughby","year":"2003","journal-title":"Epilepsia"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.yebeh.2006.07.008","article-title":"Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy","volume":"9","author":"Brodtkorb","year":"2006","journal-title":"Epilepsy Behav."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"106944","DOI":"10.1016\/j.yebeh.2020.106944","article-title":"Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy","volume":"105","author":"Lossius","year":"2020","journal-title":"Epilepsy Behav."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"e13","DOI":"10.1111\/j.1528-1167.2012.03715.x","article-title":"Resolution of epileptic encephalopathy following treatment with transdermal nicotine","volume":"54","author":"Zerem","year":"2013","journal-title":"Epilepsia"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.bcp.2017.12.008","article-title":"The wonderland of neuronal nicotinic acetylcholine receptors","volume":"151","author":"Bertrand","year":"2018","journal-title":"Biochem. Pharmacol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1021\/acs.jmedchem.9b01409","article-title":"Structure and activity studies of disulfide-deficient analogues of \u03b1O-conotoxin GeXIVA","volume":"63","author":"Xu","year":"2020","journal-title":"J. Med. Chem."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/nature19785","article-title":"X-ray structure of the human \u03b14\u03b22 nicotinic receptor","volume":"538","author":"Noviello","year":"2016","journal-title":"Nature"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1111\/epi.13863","article-title":"Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy","volume":"58","author":"Puligheddu","year":"2017","journal-title":"Epilepsia"},{"key":"ref_139","first-page":"1189","article-title":"Modulation of the gamma-aminobutyric acid type A receptor by the antiepileptic drugs carbamazepine and phenytoin","volume":"47","author":"Granger","year":"1995","journal-title":"Mol. Pharmacol."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1124\/jpet.106.104968","article-title":"The mechanism of carbamazepine aggravation of absence seizures","volume":"319","author":"Liu","year":"2006","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1139\/y90-079","article-title":"Potassium currents in rat cortical neurons in culture are enhanced by the antiepileptic drug carbamazepine","volume":"68","author":"Zona","year":"1990","journal-title":"Can. J. Physiol. Pharmacol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/s11064-015-1749-0","article-title":"Effects of levetiracetam, carbamazepine, phenytoin, valproate, lamotrigine, oxcarbazepine, topiramate, vinpocetine and sertraline on presynaptic hippocampal Na(+) and Ca(2+) channels permeability","volume":"41","author":"Sitges","year":"2016","journal-title":"Neurochem. Res."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/s12264-019-00413-5","article-title":"SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine","volume":"36","author":"Zhang","year":"2020","journal-title":"Neurosci. Bull."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1528-1167.2008.01759.x","article-title":"Oxcarbazepine, not its active metabolite, potentiates GABAA activation and aggravates absence seizures","volume":"50","author":"Zheng","year":"2009","journal-title":"Epilepsia"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"S47","DOI":"10.1111\/j.1528-1157.1994.tb05967.x","article-title":"Oxcarbazepine: Preclinical anticonvulsant profile and putative mechanisms of action","volume":"35","author":"Schmutz","year":"1994","journal-title":"Epilepsia"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1177\/0883073819854853","article-title":"Two patients with KCNT1-related epilepsy responding to phenobarbital and potassium bromide","volume":"34","author":"Datta","year":"2019","journal-title":"J. Child Neurol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.tcm.2010.03.002","article-title":"Sodium channel molecular conformations and antiarrhythmic drug affinity","volume":"20","author":"Sheets","year":"2010","journal-title":"Trends Cardiovasc. Med."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"12618","DOI":"10.1038\/s41598-017-12574-2","article-title":"Knockout of the epilepsy gene Depd5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling","volume":"7","author":"Hughes","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.nbd.2017.12.010","article-title":"A mouse model of DEPD5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility","volume":"111","author":"Yuskaitis","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1093\/hmg\/ddaa068","article-title":"Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1","volume":"29","author":"Klofas","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"8734","DOI":"10.1523\/JNEUROSCI.0931-10.2010","article-title":"Endogenous signaling through \u03b17-containing nicotinic receptors promotes maturation and integration of adult-born neurons in the hippocampus","volume":"30","author":"Campbell","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"7651","DOI":"10.1523\/JNEUROSCI.6246-11.2012","article-title":"Glutamatergic synapse formation is promoted by \u03b17-containing nicotinic acetylcholine receptors","volume":"32","author":"Lozada","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.neuroscience.2012.12.025","article-title":"Dendritic spine alterations in the hippocampus and parietal cortex of \u03b17 nicotinic acetylcholine receptor knockout mice","volume":"233","author":"Morley","year":"2013","journal-title":"Neuroscience"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.nbd.2013.11.021","article-title":"Cortical synaptic NMDA receptor deficits in \u03b17 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases","volume":"63","author":"Lin","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"11567","DOI":"10.1073\/pnas.1006269107","article-title":"Alterations of cortical pyramidal neurons in mice lacking high-affinity nicotinic receptors","volume":"107","author":"Bourgeois","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"8391","DOI":"10.1523\/JNEUROSCI.6247-11.2012","article-title":"Induction of dendritic spines by \u03b22-containing nicotinic receptors","volume":"32","author":"Lozada","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.biopsych.2011.09.011","article-title":"Nicotinic \u03b15 subunits drive developmental changes in the activation and morphology of prefrontal cortex layer VI neurons","volume":"71","author":"Bailey","year":"2012","journal-title":"Biol. Psychiatry"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"398","DOI":"10.3389\/fncel.2015.00398","article-title":"Dendritic spine density of prefrontal layer 6 pyramidal neurons in relation to apical dendrite sculpting by nicotinic acetylcholine receptors","volume":"9","author":"Kang","year":"2015","journal-title":"Front. Cell. Neurosci."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.tins.2017.06.008","article-title":"Seizing control of KCC2: A new therapeutic target for epilepsy","volume":"40","author":"Moore","year":"2017","journal-title":"Trends Neurosci."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"10166","DOI":"10.1073\/pnas.1810134115","article-title":"Potentiating KCC2 activity is sufficient to limit the onset and severity of seizures","volume":"115","author":"Moore","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pneurobio.2017.11.002","article-title":"KCC2, epileptiform synchronization, and epileptic disorders","volume":"162","author":"Awad","year":"2018","journal-title":"Prog. Neurobiol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.eplepsyres.2013.08.018","article-title":"A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)","volume":"107","author":"Yamada","year":"2013","journal-title":"Epilepsy Res."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"11196","DOI":"10.1523\/JNEUROSCI.5222-14.2015","article-title":"High-affinity nicotinic receptors modulate spontaneous cortical up states in vitro","volume":"35","author":"Sigalas","year":"2015","journal-title":"J. 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