{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:47:48Z","timestamp":1791330468746,"version":"4.3.1"},"reference-count":121,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,9,20]],"date-time":"2001-09-20T00:00:00Z","timestamp":1000944000000},"content-version":"vor","delay-in-days":111,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ion channels provide the basis for the regulation of excitability in the central nervous system and in other excitable tissues such as skeletal and heart muscle. Consequently, mutations in ion channel encoding genes are found in a variety of inherited diseases associated with hyper\u2010 or hypoexcitability of the affected tissue, the so\u2010called \u2018channelopathies.\u2019 An increasing number of epileptic syndromes belongs to this group of rare disorders: Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes:\n                    <jats:italic>CHRNA4, CHRNB2<\/jats:italic>\n                    ), benign familial neonatal convulsions by mutations in potassium channels constituting the M\u2010current (\n                    <jats:italic>KCNQ2, KCNQ3<\/jats:italic>\n                    ), generalized epilepsy with febrile seizures plus by mutations in subunits of the voltage\u2010gated sodium channel or the GABA\n                    <jats:sub>A<\/jats:sub>\n                    receptor (\n                    <jats:italic>SCN1B, SCN1A, GABRG2<\/jats:italic>\n                    ), and episodic ataxia type 1\u2014which is associated with epilepsy in a few patients\u2014by mutations within another voltage\u2010gated potassium channel (\n                    <jats:italic>KCNA1<\/jats:italic>\n                    ). These rare disorders provide interesting models to study the etiology and pathophysiology of disturbed excitability in molecular detail. On the basis of genetic and electrophysiologic studies of the channelopathies, novel therapeutic strategies can be developed, as has been shown recently for the antiepileptic drug retigabine activating neuronal KCNQ potassium channels. \u00a9 2001 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.1582","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T07:25:39Z","timestamp":1033889139000},"page":"146-159","source":"Crossref","is-referenced-by-count":135,"title":["Ion channels and epilepsy"],"prefix":"10.1002","volume":"106","author":[{"given":"Holger","family":"Lerche","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Jurkat\u2010Rott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Lehmann\u2010Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90022-5"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2000.00533.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0953-816x.2001.01590.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302593"},{"key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/ng0501-46","article-title":"First genetic evidence of GABA\u2010A receptor dysfunction in epilepsy: a mutation in the g2\u2010subunit gene","volume":"28","author":"Baulac S","year":"2001","journal-title":"Nat Genet"},{"key":"e_1_2_10_7_1","first-page":"171","article-title":"Nicotinic receptor: a prototype of allosteric ligand\u2010gated ion channels and its possible implications in epilepsy","volume":"79","author":"Bertrand D","year":"1999","journal-title":"Adv Neurol"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjp.0702154"},{"key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/PL00008713","article-title":"Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions","volume":"104","author":"Biervert C","year":"1999","journal-title":"Hum Genet"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5349.403"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.1999.00659.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-136"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/113.5.1361"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00914.x"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81133-2"},{"key":"e_1_2_10_16_1","first-page":"1","volume-title":"Handbook of receptors and channels. 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