Generalized epilepsy with febrile seizures plus

Febrile seizures [DS:H00783]

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.

Nervous system disease

nt06544 Neuroactive ligand signaling

(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]
(GEFSP12) SLC32A1 [HSA:140679] [KO:K15015]

PMID:21858011

Piro RM, Molineris I, Ala U, Di Cunto F

Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.

PLoS One 6:e23149 (2011)
DOI:10.1371/journal.pone.0023149

PMID:14738422 (GEFSP1 GEFSP2 GEFSP3)

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

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Epilepsia 45:149-58 (2004)
DOI:10.1111/j.0013-9580.2004.04303.x

PMID:15115768 (GEFSP5)

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

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Hum Mol Genet 13:1315-9 (2004)
DOI:10.1093/hmg/ddh146

PMID:25362483 (GEFSP9)

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

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Nat Genet 46:1327-32 (2014)
DOI:10.1038/ng.3130

PMID:30351409 (GEFSP10)

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

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Brain 141:3160-3178 (2018)
DOI:10.1093/brain/awy263

PMID:22131395 (GEFSP11)

DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D

Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.

J Neurosci 31:17327-37 (2011)
DOI:10.1523/JNEUROSCI.3727-11.2011

PMID:34038384 (GEFSP12)

Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gecz J, Berkovic SF

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Neurology 96:e2251-e2260 (2021)
DOI:10.1212/WNL.0000000000011855