Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2206
Título: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Autor: Kasperavičiute, D.
Catarino, C.B.
Matarin, M.
Leu, C.
Novy, J.
Tostevin, A.
Leal, B.
Hessel, E.V.S.
Hallmann, K.
Hildebrand, M.S.
Dahl, H-H.M.
Ryten, M.
Trabzuni, D.
Ramasamy, A.
Alhusaini, S.
Doherty, C.P.
Dorn, T.
Hansen, J.
Krämer, G.
Steinhoff, B.J.
Zumsteg, D.
Duncan, S.
Kälviäinen, R.K.
Eriksson, K.J.
Kantanen, A-M
Pandolfo, M.
Gruber-Sedlmayr, U.
Schlachter, K.
Reinthaler, E.M.
Stogmann, E.
Zimprich, F.
Theatre, E.
Smith, C.
Obrien, T.J.
Tan, K.M.
Petrovski, S.
Robbiano, A.
Paravidino, R.
Zara, F.
Striano, P.
Sperling, M.R.
Buono, R.J.
Hakonarson, H.
Chaves, J.
Costa, P.P.
Silva, B.M.
Da Silva, A.M.
De Graan, P.N.E.
Koeleman, B.P.C.
Becker, A.
Schoch, S.
Von Lehe, M.
Reif, P.S.
Rosenow, F.
Becker, F.
Weber, Y.
Lerche, H.
Roessler, K.
Buchfelder, M.
Hamer, H.M.
Kobow, K.
Coras, R.
Blumcke, I.
Scheffer, I.E.
Berkovic, S.F.
Weale, M.E.
Delanty, N.
Depondt, C.
Cavalleri, G.L.
Kunz, W.S.
Sisodiya, S.M.
Palavras-chave: Epilepsy
Hippocampal Sclerosis
Febrile Seizures
MTLE
GWAS
Genome Wide Association Study
SCN1A
Complex Disease Genetics
Determinantes da Saúde e da Doença
Doenças Genéticas
Data: 6-Set-2013
Editora: Oxford University Press (OUP)
Citação: Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6
Resumo: Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizures.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2206
ISSN: 0006-8950
doi: 10.1093/brain/awt233
Versão do Editor: http://brain.oxfordjournals.org/content/136/10/3140.long
Aparece nas colecções:DGH - Artigos em revistas internacionais

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