Purpose: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities / Marini C; Mei D; Temudo T; Ferrari AR; Buti D; Dravet C; Dias AI; Moreira A; Calado E; Seri S; Neville B; Narbona J; Reid E; Michelucci R; Sicca F; Cross HJ; Guerrini R.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 48 (9):(2007), pp. 1678-1685. [10.1111/j.1528-1167.2007.01122.x]
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C;GUERRINI, RENZO
2007
Abstract
Purpose: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.
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