P>Deletions and duplications/amplifications of the alpha 1-sodium channel subunit (SCN1A) gene occur in about 12% of patients with Dravet syndrome (DS) who are otherwise mutation-negative. Such genomic abnormalities cause loss of function, with severe phenotypes, reproductive disadvantage and, therefore, sporadic occurrence. Inherited mutations, occurring in similar to 5% of patients with DS, are usually missense; transmission occurs from a mildly affected parent exhibiting febrile seizures (FS) or the generalized epilepsy with febrile seizures plus (GEFS+) spectrum
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene / Guerrini R; Cellini E; Mei D; Metitieri T; Petrelli C; Pucatti D; Marini C; Zamponi N. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 51(12):(2010), pp. 2474-2477. [10.1111/j.1528-1167.2010.02790.x]
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
GUERRINI, RENZO;Marini C;
2010
Abstract
P>Deletions and duplications/amplifications of the alpha 1-sodium channel subunit (SCN1A) gene occur in about 12% of patients with Dravet syndrome (DS) who are otherwise mutation-negative. Such genomic abnormalities cause loss of function, with severe phenotypes, reproductive disadvantage and, therefore, sporadic occurrence. Inherited mutations, occurring in similar to 5% of patients with DS, are usually missense; transmission occurs from a mildly affected parent exhibiting febrile seizures (FS) or the generalized epilepsy with febrile seizures plus (GEFS+) spectrum
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