KEGG   DISEASE: Generalized epilepsy with febrile seizures plus
Entry
H02564                      Disease                                
Name
Generalized epilepsy with febrile seizures plus
  Supergrp
Febrile seizures [DS:H00783]
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H02564  Generalized epilepsy with febrile seizures plus
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02564  Generalized epilepsy with febrile seizures plus
Related
pathway
hsa04727 GABAergic synapse   
hsa04929 GnRH secretion   
hsa04721 Synaptic vesicle cycle   
Gene
(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]
Other DBs
ICD-11: 8A61.2Y
ICD-10: G40.3
MeSH: C565808
OMIM: 604233 604403 607681 613060 616172 618482 602477
Reference
  Authors
Piro RM, Molineris I, Ala U, Di Cunto F
  Title
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
  Journal
PLoS One 6:e23149 (2011)
DOI:10.1371/journal.pone.0023149
Reference
PMID:14738422 (SCN1A, SCN1B, GABRG2)
  Authors
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
  Title
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
  Journal
Epilepsia 45:149-58 (2004)
DOI:10.1111/j.0013-9580.2004.04303.x
Reference
PMID:15115768 (GABRD)
  Authors
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
  Title
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
  Journal
Hum Mol Genet 13:1315-9 (2004)
DOI:10.1093/hmg/ddh146
Reference
PMID:25362483 (STX1B)
  Authors
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
  Title
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
  Journal
Nat Genet 46:1327-32 (2014)
DOI:10.1038/ng.3130
Reference
PMID:30351409 (HCN1)
  Authors
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
  Title
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
  Journal
Brain 141:3160-3178 (2018)
DOI:10.1093/brain/awy263
Reference
PMID:22131395 (HCN2)
  Authors
DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D
  Title
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
  Journal
J Neurosci 31:17327-37 (2011)
DOI:10.1523/JNEUROSCI.3727-11.2011
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