H00808 | |
H番号 | H00808 |
名称 | 特発性全般てんかん |
概要 | Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families. |
カテゴリ | 神経系疾患 |
ネットワーク | - |
病因遺伝子 | (EIG6) CACNA1H [HSA:8912] [KO:K04855] (EIG8) CASR [HSA:846] [KO:K04612] (EIG9) CACNB4 [HSA:785] [KO:K04865] (EIG10) GABRD [HSA:2563] [KO:K05184] (EIG11) CLCN2 [HSA:1181] [KO:K05011] (EIG12) SLC2A1 [HSA:6513] [KO:K07299] (EIG13) GABRA1 [HSA:2554] [KO:K05175] (EIG14) SLC12A5 [HSA:57468] [KO:K23967] (EIG15) RORB [HSA:6096] [KO:K08533] (EIG16) KCNMA1 [HSA:3778] [KO:K04936] (EIG18) HCN4 [HSA:10021] [KO:K04957] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic. |
リンク | ICD-11: 8A61 ICD-10: G40.3 MeSH: C562694 OMIM: 600669 611942 612899 607682 613060 607628 614847 611136 616685 618357 618596 619521 |
文献 | PMID:15101828 著者 Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF タイトル Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. 雑誌 Epilepsia 45:467-78 (2004) DOI:10.1111/j.0013-9580.2004.46803.x PMID:18754913 著者 Weber YG, Lerche H タイトル Genetic mechanisms in idiopathic epilepsies. 雑誌 Dev Med Child Neurol 50:648-54 (2008) DOI:10.1111/j.1469-8749.2008.03058.x PMID:15048902 (EIG6) 著者 Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE タイトル Genetic variation of CACNA1H in idiopathic generalized epilepsy. 雑誌 Ann Neurol 55:595-6 (2004) DOI:10.1002/ana.20028 PMID:18756473 (EIG8) 著者 Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A タイトル An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. 雑誌 Ann Neurol 64:158-67 (2008) DOI:10.1002/ana.21428 PMID:10762541 (EIG9) 著者 Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH タイトル Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 雑誌 Am J Hum Genet 66:1531-9 (2000) DOI:10.1086/302909 PMID:15115768 (EIG10) 著者 Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC タイトル GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. 雑誌 Hum Mol Genet 13:1315-9 (2004) DOI:10.1093/hmg/ddh146 PMID:12612585 (EIG11) 著者 Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A タイトル Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 雑誌 Nat Genet 33:527-32 (2003) DOI:10.1038/ng1121 PMID:23280796 (EIG12) 著者 Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE タイトル Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 雑誌 Ann Neurol 72:807-15 (2012) DOI:10.1002/ana.23702 PMID:21714819 (EIG13) 著者 Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P タイトル Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 雑誌 Eur J Neurosci 34:237-49 (2011) DOI:10.1111/j.1460-9568.2011.07767.x PMID:24928908 (EIG14) 著者 Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA タイトル Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. 雑誌 EMBO Rep 15:766-74 (2014) DOI:10.15252/embr.201438840 PMID:27352968 (EIG15) 著者 Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Moller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Bena F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P タイトル Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. 雑誌 Eur J Hum Genet 24:1761-1770 (2016) DOI:10.1038/ejhg.2016.80 PMID:29330545 (EIG16) 著者 Li X, Poschmann S, Chen Q, Fazeli W, Oundjian NJ, Snoeijen-Schouwenaars FM, Fricke O, Kamsteeg EJ, Willemsen M, Wang QK タイトル De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity. 雑誌 Eur J Hum Genet 26:220-229 (2018) DOI:10.1038/s41431-017-0073-3 PMID:30127718 (EIG18) 著者 Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D タイトル A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. 雑誌 Front Mol Neurosci 11:269 (2018) DOI:10.3389/fnmol.2018.00269 |