Generalized epilepsy with febrile seizures plus

Definition:

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.

References:

[1]. Carla Marini, et al. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. [Content Brief]

[2]. Jacopo C DiFrancesco, et al. Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy. J Neurosci. 2011 Nov 30;31(48):17327-37. [Content Brief]

[3]. Julian Schubert, et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. [Content Brief]

[4]. Leanne M Dibbens, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. [Content Brief]

[5]. Paolo Bonanni, et al. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia. 2004 Feb;45(2):149-58. [Content Brief]

[6]. Rosario M Piro, et al. Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases. PLoS One. 2011;6(8):e23149. [Content Brief]

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