KEGG   DISEASE: 全般てんかん熱性けいれんプラス
エントリ  
H02564                                                             
名称    
全般てんかん熱性けいれんプラス
  上位グループ
熱性けいれん [DS:H00783]
概要    
Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor subunit genes have been identified in GEFSP.
カテゴリ  
神経系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  てんかん
   H02564  全般てんかん熱性けいれんプラス
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  てんかんまたは発作
   8A61  主にてんかんとして発現する遺伝的または推定される遺伝的症候群
    H02564  全般てんかん熱性けいれんプラス
パスウェイ 
hsa04727  GABAergic synapse
hsa04929  GnRH secretion
hsa04721  Synaptic vesicle cycle
病因遺伝子 
(GEFSP1) SCN1B [HSA:6324] [KO:K04845]
(GEFSP2) SCN1A [HSA:6323] [KO:K04833]
(GEFSP3) GABRG2 [HSA:2566] [KO:K05186]
(GEFSP5) GABRD [HSA:2563] [KO:K05184]
(GEFSP9) STX1B [HSA:112755] [KO:K08486]
(GEFSP10) HCN1 [HSA:348980] [KO:K04954]
(GEFSP11) HCN2 [HSA:610] [KO:K04955]
リンク   
ICD-11: 8A61.2Y
ICD-10: G40.3
MeSH: C565808
OMIM: 604233 604403 607681 613060 616172 618482 602477
文献    
  著者
Piro RM, Molineris I, Ala U, Di Cunto F
  タイトル
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
  雑誌
PLoS One 6:e23149 (2011)
DOI:10.1371/journal.pone.0023149
文献    
PMID:14738422 (SCN1A, SCN1B, GABRG2)
  著者
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R
  タイトル
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
  雑誌
Epilepsia 45:149-58 (2004)
DOI:10.1111/j.0013-9580.2004.04303.x
文献    
PMID:15115768 (GABRD)
  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
文献    
PMID:25362483 (STX1B)
  著者
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, Caliebe A, Nagel I, Kohl B, Kecskes A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Moller RS, Hjalgrim H, Koeleman BP, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nurnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H
  タイトル
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
  雑誌
Nat Genet 46:1327-32 (2014)
DOI:10.1038/ng.3130
文献    
PMID:30351409 (HCN1)
  著者
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C
  タイトル
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
  雑誌
Brain 141:3160-3178 (2018)
DOI:10.1093/brain/awy263
文献    
PMID:22131395 (HCN2)
  著者
DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D
  タイトル
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
  雑誌
J Neurosci 31:17327-37 (2011)
DOI:10.1523/JNEUROSCI.3727-11.2011
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