1) てんかん診療ガイドライン 2018. 日本神経学会監, 「てんかん診療ガイドライン」作成委員会編, 医学書院, 東京, 2018, pp. 165-167
2) Ottman R, Hirose S, Jain S et al : Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilespia 51 : 655-670, 2010
3) Meldrum BS, Rogawski MA : Molecular targets for antiepileptic drug development. Neurotherapeutics 4 : 18-61, 2007
4) Wallace RH, Wang DW, Singh R et al : Febrile seizures and generalized epilepsy associated with a mutation in the Na+ -channel betal subunit gene SCNIB. Nat Genet 19 : 366-370, 1998
5) Alekov A, Rahman MM, Mitrovic N et al : A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J Physiol 529 : 533-539, 2000
6) Claes L, Del-Favero J, Ceulemans B et al : De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68 : 1327-1332, 2001
7) Lossin C, Rhodes TH, Desai RR et al : Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci 23 : 11289-11295, 2003
8) Ogiwara I, Miyamoto H, Morita N et al : Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons : a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 27 : 5903-5914, 2007
9) Cooper EC, Jan LY : M-channels : neurological diseases, neuromodulation, and drug development. Arch Neurol 60 : 496-500, 2003
10) Biervert C, Schroeder BC, Kubisch C et al : A potassium channel mutation in neonatal human epilepsy. Science 279 : 403-406, 1998
11) Charlier C, Singh NA, Ryan SG et al : A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18 : 53-55, 1998
12) Okada M, Zhu G, Hirose S et al : Age-dependent modulation of hippocampal excitability by KCNQ-channels. Epilepsy Res 53 : 81-94, 2003
13) Bockenhauer D, Feather S, Stanescu HC et al : Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations. N Engl J Med 360 : 1960-1970, 2009
14) Scholl UI, Choi M, Liu T et al : Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Pro Natl Acad Sci U S A 106 : 5842-5847, 2009
15) Chen Y, Lu J, Pan H et al : Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 54 : 239-243, 2003
16) Imbrici P, Jaffe SL, Eunson LH et al : Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain 127 : 2682-2692, 2004
17) Kang JQ, Macdonald RL : GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome. JAMA Neurol 73 : 1009-1016, 2017
18) Johannesen K, Marini C, Pfeffer S et al : Phenotypic spectrum of GABRA1 : From generalized epilepsies to severe epileptic encephalopathies. Neurology 87 : 1140-1151, 2016
19) Becchetti A, Aracri P, Meneghini S et al : The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. Front Physiol 6 : 22, 2015
20) Kalachikov S, Evgrafov O, Ross B et al : Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30 : 335-341, 2002
21) Fukata Y, Yokoi N, Miyazaki Y et al : The LGI1-ADAM22 protein complex in synaptic transmission and synaptic disorders. Neurosci Res 116 : 39-45, 2017