{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T13:58:43Z","timestamp":1792331923204,"version":"4.4.0"},"reference-count":95,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,17]],"date-time":"2013-07-17T00:00:00Z","timestamp":1374019200000},"content-version":"vor","delay-in-days":1020,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuron"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1016\/j.neuron.2010.10.008","type":"journal-article","created":{"date-parts":[[2010,10,21]],"date-time":"2010-10-21T05:32:30Z","timestamp":1287639150000},"page":"282-292","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["Episodic Neurological Channelopathies"],"prefix":"10.1016","volume":"68","author":[{"given":"Devon P.","family":"Ryan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis J.","family":"Pt\u00e1\u010dek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neuron.2010.10.008_bib1","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":"10.1016\/j.neuron.2010.10.008_bib2","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1212\/WNL.58.8.1266","article-title":"Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5","volume":"58","author":"Bendahhou","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib3","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1126\/science.279.5349.403","article-title":"A potassium channel mutation in neonatal human epilepsy","volume":"279","author":"Biervert","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.neuron.2010.10.008_bib4","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa0810276","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuron.2010.10.008_bib5","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng1094-136","article-title":"Episodic ataxia\/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1","volume":"8","author":"Browne","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib6","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1212\/WNL.53.9.1932","article-title":"A novel sodium channel mutation in a family with hypokalemic periodic paralysis","volume":"53","author":"Bulman","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib7","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1097\/GIM.0b013e3181d81636","article-title":"Genetics and cardiac channelopathies","volume":"12","author":"Campuzano","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.neuron.2010.10.008_bib8","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/S0006-3495(93)81045-2","article-title":"Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels","volume":"65","author":"Cannon","year":"1993","journal-title":"Biophys. J."},{"key":"10.1016\/j.neuron.2010.10.008_bib9","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.neuron.2010.08.021","article-title":"Ion channel voltage sensors: structure, function, and pathophysiology","volume":"67","author":"Catterall","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2010.10.008_bib10","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1124\/pr.57.4.4","article-title":"International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels","volume":"57","author":"Catterall","year":"2005","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.neuron.2010.10.008_bib11","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1124\/pr.57.4.5","article-title":"International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels","volume":"57","author":"Catterall","year":"2005","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.neuron.2010.10.008_bib12","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1113\/jphysiol.2010.187484","article-title":"NaV1.1 channels and epilepsy","volume":"588","author":"Catterall","year":"2010","journal-title":"J. Physiol."},{"key":"10.1016\/j.neuron.2010.10.008_bib13","doi-asserted-by":"crossref","first-page":"7273","DOI":"10.1523\/JNEUROSCI.4453-07.2008","article-title":"Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel","volume":"28","author":"Cest\u00e8le","year":"2008","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib14","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1093\/brain\/awq114","article-title":"Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia","volume":"133","author":"Choi","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2010.10.008_bib15","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1038\/nature05413","article-title":"An SCN9A channelopathy causes congenital inability to experience pain","volume":"444","author":"Cox","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2010.10.008_bib16","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/mus.880130106","article-title":"Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family","volume":"13","author":"de Silva","year":"1990","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.neuron.2010.10.008_bib17","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/brain\/awh514","article-title":"Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons","volume":"128","author":"Dib-Hajj","year":"2005","journal-title":"Brain"},{"issue":"Suppl 1","key":"10.1016\/j.neuron.2010.10.008_bib18","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1080\/17431380410032490","article-title":"Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity","volume":"36","author":"Donaldson","year":"2004","journal-title":"Ann. Med."},{"key":"10.1016\/j.neuron.2010.10.008_bib19","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/ng1585","article-title":"Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder","volume":"37","author":"Du","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib20","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev-physiol-021909-135811","article-title":"Chloride channels: often enigmatic, rarely predictable","volume":"72","author":"Duran","year":"2010","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.neuron.2010.10.008_bib21","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1126\/science.1082708","article-title":"Gating the selectivity filter in ClC chloride channels","volume":"300","author":"Dutzler","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.neuron.2010.10.008_bib22","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s12031-009-9229-0","article-title":"What have we learned from the congenital myasthenic syndromes","volume":"40","author":"Engel","year":"2010","journal-title":"J. Mol. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib23","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.neuron.2006.10.006","article-title":"SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes","volume":"52","author":"Fertleman","year":"2006","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2010.10.008_bib24","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1212\/01.wnl.0000268065.16865.5f","article-title":"Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)","volume":"69","author":"Fertleman","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib25","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/NRL.0b013e31818fc765","article-title":"Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M","volume":"15","author":"Finsterer","year":"2009","journal-title":"Neurologist"},{"key":"10.1016\/j.neuron.2010.10.008_bib26","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1749-6632.2009.05110.x","article-title":"Familial pain syndromes from mutations of the NaV1.7 sodium channel","volume":"1184","author":"Fischer","year":"2010","journal-title":"Ann. N Y Acad. Sci."},{"key":"10.1016\/j.neuron.2010.10.008_bib27","doi-asserted-by":"crossref","first-page":"3799","DOI":"10.1073\/pnas.0914537107","article-title":"Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy","volume":"107","author":"Fukata","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib28","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ana.410040411","article-title":"The pathophysiology of myotonia produced by aromatic carboxylic acids","volume":"4","author":"Furman","year":"1978","journal-title":"Ann. Neurol."},{"issue":"Suppl 4","key":"10.1016\/j.neuron.2010.10.008_bib29","doi-asserted-by":"crossref","first-page":"S239","DOI":"10.1007\/s10072-003-0086-2","article-title":"Rasmussen's syndrome","volume":"24","author":"Granata","year":"2003","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.neuron.2010.10.008_bib30","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1124\/pr.57.4.10","article-title":"International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels","volume":"57","author":"Gutman","year":"2005","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.neuron.2010.10.008_bib31","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1523\/JNEUROSCI.19-05-01610.1999","article-title":"Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine","volume":"19","author":"Hans","year":"1999","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib32","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.tig.2008.06.005","article-title":"The genetics of hyperekplexia: More than startle!","volume":"24","author":"Harvey","year":"2008","journal-title":"Trends Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib33","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.yjmcc.2009.04.010","article-title":"Cardiac ankyrins in health and disease","volume":"47","author":"Hashemi","year":"2009","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.neuron.2010.10.008_bib34","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1093\/hmg\/2.9.1349","article-title":"A novel SCN4A mutation causing myotonia aggravated by cold and potassium","volume":"2","author":"Heine","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib35","series-title":"Ion channels of excitable membranes","author":"Hille","year":"2001"},{"issue":"Suppl 1","key":"10.1016\/j.neuron.2010.10.008_bib36","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.0013-9580.2005.461011.x","article-title":"Genetics of idiopathic epilepsies","volume":"46","author":"Hirose","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuron.2010.10.008_bib37","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/hmg\/8.7.1185","article-title":"Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6","volume":"8","author":"Ishikawa","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib38","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1093\/brain\/awm126","article-title":"Primary episodic ataxias: diagnosis, pathogenesis and treatment","volume":"130","author":"Jen","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2010.10.008_bib39","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/hmg\/3.8.1415","article-title":"A calcium channel mutation causing hypokalemic periodic paralysis","volume":"3","author":"Jurkat-Rott","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib40","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.1073\/pnas.0811277106","article-title":"K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks","volume":"106","author":"Jurkat-Rott","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib41","doi-asserted-by":"crossref","first-page":"11065","DOI":"10.1523\/JNEUROSCI.2162-07.2007","article-title":"Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy","volume":"27","author":"Kalume","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib42","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1126\/science.1379744","article-title":"The skeletal muscle chloride channel in dominant and recessive human myotonia","volume":"257","author":"Koch","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.neuron.2010.10.008_bib43","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1124\/pr.57.4.11","article-title":"International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels","volume":"57","author":"Kubo","year":"2005","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.neuron.2010.10.008_bib44","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.coph.2009.04.005","article-title":"Autoimmune disorders of the neuromuscular junction","volume":"9","author":"Lang","year":"2009","journal-title":"Curr. Opin. Pharmacol."},{"key":"10.1016\/j.neuron.2010.10.008_bib45","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1093\/hmg\/ddh330","article-title":"The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway","volume":"13","author":"Lee","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib46","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/1531-8249(199909)46:3<305::AID-ANA5>3.0.CO;2-5","article-title":"A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions","volume":"46","author":"Lerche","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuron.2010.10.008_bib47","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0065-2660(08)01002-X","article-title":"Myotonia congenita","volume":"63","author":"Lossin","year":"2008","journal-title":"Adv. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib48","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1152\/physrev.00042.2003","article-title":"Molecular structure and function of the glycine receptor chloride channel","volume":"84","author":"Lynch","year":"2004","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.neuron.2010.10.008_bib49","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0165-5728(02)00261-8","article-title":"Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures","volume":"131","author":"Mantegazza","year":"2002","journal-title":"J. Neuroimmunol."},{"key":"10.1016\/j.neuron.2010.10.008_bib50","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.bcp.2007.06.030","article-title":"The role of the nicotinic acetylcholine receptors in sleep-related epilepsy","volume":"74","author":"Marini","year":"2007","journal-title":"Biochem. Pharmacol."},{"issue":"Suppl 3","key":"10.1016\/j.neuron.2010.10.008_bib51","first-page":"S124","article-title":"Epidemiology and biology of menstrual migraine","volume":"48","author":"Martin","year":"2008","journal-title":"Headache"},{"key":"10.1016\/j.neuron.2010.10.008_bib52","doi-asserted-by":"crossref","first-page":"9823","DOI":"10.1074\/jbc.M109.078568","article-title":"Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities","volume":"285","author":"Martin","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neuron.2010.10.008_bib53","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/0092-8674(92)90151-2","article-title":"Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita","volume":"68","author":"McClatchey","year":"1992","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib54","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1113\/jphysiol.2002.026716","article-title":"The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P\/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells","volume":"546","author":"Melliti","year":"2003","journal-title":"J. Physiol."},{"key":"10.1016\/j.neuron.2010.10.008_bib55","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1093\/brain\/awp172","article-title":"The monogenic primary dystonias","volume":"132","author":"M\u00fcller","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2010.10.008_bib56","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.braindev.2008.11.014","article-title":"Progress in searching for the febrile seizure susceptibility genes","volume":"31","author":"Nakayama","year":"2009","journal-title":"Brain Dev."},{"key":"10.1016\/j.neuron.2010.10.008_bib57","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/ana.10347","article-title":"A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures","volume":"52","author":"Nakayama","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuron.2010.10.008_bib58","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1093\/brain\/awn180","article-title":"Up-regulation of slow K(+) channels in peripheral motor axons: a transcriptional channelopathy in multiple sclerosis","volume":"131","author":"Ng","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2010.10.008_bib59","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1101\/gr.104976.110","article-title":"Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2","volume":"20","author":"Nissenbaum","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2010.10.008_bib60","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/humu.20925","article-title":"LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy","volume":"30","author":"Nobile","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neuron.2010.10.008_bib61","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1113\/jphysiol.2010.188003","article-title":"Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine","volume":"588","author":"Pietrobon","year":"2010","journal-title":"J. Physiol."},{"key":"10.1016\/j.neuron.2010.10.008_bib62","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","article-title":"Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib63","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0092-8674(91)90374-8","article-title":"Identification of a mutation in the gene causing hyperkalemic periodic paralysis","volume":"67","author":"Pt\u00e1cek","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib64","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/0896-6273(92)90203-P","article-title":"Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita","volume":"8","author":"Pt\u00e1cek","year":"1992","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2010.10.008_bib65","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/0092-8674(94)90135-X","article-title":"Dihydropyridine receptor mutations cause hypokalemic periodic paralysis","volume":"77","author":"Pt\u00e1cek","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib66","doi-asserted-by":"crossref","first-page":"14490","DOI":"10.1073\/pnas.1003072107","article-title":"KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function","volume":"107","author":"Reichold","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib67","doi-asserted-by":"crossref","first-page":"5148","DOI":"10.1073\/pnas.0913181107","article-title":"Pain perception is altered by a nucleotide polymorphism in SCN9A","volume":"107","author":"Reimann","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib68","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/354387a0","article-title":"A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis","volume":"354","author":"Rojas","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2010.10.008_bib69","doi-asserted-by":"crossref","first-page":"8245","DOI":"10.1073\/pnas.0602813103","article-title":"A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons","volume":"103","author":"Rush","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib70","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.cell.2009.12.024","article-title":"Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis","volume":"140","author":"Ryan","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib71","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib72","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/25367","article-title":"Moderate loss of function of cyclic-AMP-modulated KCNQ2\/KCNQ3 K+ channels causes epilepsy","volume":"396","author":"Schroeder","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2010.10.008_bib73","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1161\/CIRCULATIONAHA.105.592899","article-title":"The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome","volume":"113","author":"Schwartz","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.neuron.2010.10.008_bib74","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s00424-009-0637-3","article-title":"The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition","volume":"458","author":"Serra","year":"2009","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.neuron.2010.10.008_bib75","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0198-25","article-title":"A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns","volume":"18","author":"Singh","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib76","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0896-6273(01)00397-X","article-title":"A novel gene causing a mendelian audiogenic mouse epilepsy","volume":"31","author":"Skradski","year":"2001","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2010.10.008_bib77","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/nature05598","article-title":"Gating pore current in an inherited ion channelopathy","volume":"446","author":"Sokolov","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2010.10.008_bib78","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1126\/science.1073569","article-title":"Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia","volume":"297","author":"Splawski","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.neuron.2010.10.008_bib79","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2010.10.008_bib80","doi-asserted-by":"crossref","first-page":"8089","DOI":"10.1073\/pnas.0502506102","article-title":"Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations","volume":"102","author":"Splawski","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"Suppl 5","key":"10.1016\/j.neuron.2010.10.008_bib81","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1528-1167.2005.01024.x","article-title":"Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua","volume":"46","author":"Takahashi","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuron.2010.10.008_bib82","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.nbd.2009.04.007","article-title":"A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation","volume":"35","author":"Tang","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neuron.2010.10.008_bib83","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1016\/j.neuron.2009.01.027","article-title":"Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice","volume":"61","author":"Tottene","year":"2009","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2010.10.008_bib84","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00424-010-0820-6","article-title":"Kir 2.1 channelopathies: the Andersen-Tawil syndrome","volume":"460","author":"Tristani-Firouzi","year":"2010","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.neuron.2010.10.008_bib85","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1212\/01.WNL.0000167409.59089.C0","article-title":"CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics","volume":"64","author":"Wan","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib86","doi-asserted-by":"crossref","first-page":"11987","DOI":"10.1073\/pnas.0804350105","article-title":"Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels","volume":"105","author":"Watase","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2010.10.008_bib87","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/35090026","article-title":"Transcriptional channelopathies: an emerging class of disorders","volume":"2","author":"Waxman","year":"2001","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib88","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s00424-008-0541-2","article-title":"The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation","volume":"457","author":"Weiss","year":"2008","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.neuron.2010.10.008_bib89","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1212\/WNL.57.8.1511","article-title":"GluR3 antibodies: prevalence in focal epilepsy but no specificity for Rasmussen's encephalitis","volume":"57","author":"Wiendl","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib90","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jmg.2003.012153","article-title":"Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia","volume":"41","author":"Yang","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neuron.2010.10.008_bib91","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ajmg.a.31092","article-title":"Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype","volume":"140","author":"Yoon","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.neuron.2010.10.008_bib92","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1212\/01.wnl.0000218214.64942.64","article-title":"Andersen-Tawil syndrome: definition of a neurocognitive phenotype","volume":"66","author":"Yoon","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2010.10.008_bib93","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/nn1754","article-title":"Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy","volume":"9","author":"Yu","year":"2006","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib94","doi-asserted-by":"crossref","first-page":"2842","DOI":"10.1523\/JNEUROSCI.18-08-02842.1998","article-title":"Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency","volume":"18","author":"Zerr","year":"1998","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neuron.2010.10.008_bib95","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0197-62","article-title":"Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel","volume":"15","author":"Zhuchenko","year":"1997","journal-title":"Nat. Genet."}],"container-title":["Neuron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627310008329?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627310008329?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T06:56:45Z","timestamp":1760252205000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0896627310008329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":95,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S0896627310008329"],"URL":"https:\/\/doi.org\/10.1016\/j.neuron.2010.10.008","relation":{},"ISSN":["0896-6273"],"issn-type":[{"value":"0896-6273","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Episodic Neurological Channelopathies","name":"articletitle","label":"Article Title"},{"value":"Neuron","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuron.2010.10.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}