Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity.
genetic conditions
References
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. GABRDencoding a protein for extra- or peri-synaptic GABAA receptors is asusceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul1;13(13):1315-9.
Macdonald RL, Kang JQ, Gallagher MJ. Mutations in GABAA receptor subunitsassociated with genetic epilepsies. J Physiol. 2010 Jun 1;588(Pt 11):1861-9. doi:10.1113/jphysiol.2010.186999.
Martin MS, Dutt K, Papale LA, Dubé CM, Dutton SB, de Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL, Escayg A. Altered function of the SCN1Avoltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic)interneuron abnormalities. J Biol Chem. 2010 Mar 26;285(13):9823-34. doi:10.1074/jbc.M109.078568.
Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, SchefferIE. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always afamilial syndrome. Epilepsia. 2017 Feb;58(2):e26-e30. doi: 10.1111/epi.13649.
Scheffer IE, Zhang YH, Jansen FE, Dibbens L. Dravet syndrome or genetic(generalized) epilepsy with febrile seizures plus? Brain Dev. 2009May;31(5):394-400. doi: 10.1016/j.braindev.2009.01.001.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, SulsA, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T,Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K,Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H,Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, RoachJC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P,Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.Mutations in STX1B, encoding a presynaptic protein, cause fever-associatedepilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130.
Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.Clinical spectrum of SCN2A mutations. Brain Dev. 2012 Aug;34(7):541-5. doi:10.1016/j.braindev.2011.09.016.
Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH,Li BM, Liao WP. Mosaic SCN1A mutations in familial partial epilepsy withantecedent febrile seizures. Genes Brain Behav. 2012 Mar;11(2):170-6. doi:10.1111/j.1601-183X.2011.00756.x.
Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J,Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF. A role of SCN9Ain human epilepsies, as a cause of febrile seizures and as a potential modifierof Dravet syndrome. PLoS Genet. 2009 Sep;5(9):e1000649. doi:10.1371/journal.pgen.1000649.
Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of twovoltage-gated sodium channel mutations that cause generalized epilepsy withfebrile seizures plus type 2. J Neurosci. 2001 Oct 1;21(19):7481-90.
Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB. Nav 1.1dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.Eur J Neurosci. 2011 Oct;34(8):1268-75. doi: 10.1111/j.1460-9568.2011.07826.x.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA,Briere LC, Harini C; Members of the Undiagnosed Diseases Network, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der SmagtJ, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Expandingthe phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variantassociated with a severe phenotype. J Neurogenet. 2017 Mar - Jun;31(1-2):30-36.doi: 10.1080/01677063.2017.1315417.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?