Abstract：
:Deletions and duplications/amplifications of the α1-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 ∼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. We identified an intragenic SCN1A deletion in a three-generation, clinically heterogeneous family. Sequence analysis of SCN9A, a putative modifier, ruled out pathogenic mutations, variants, or putative disease-associated haplotype segregating with phenotype severity. Intrafamilial variability in phenotype severity indicates that SCN1A loss of function causes a phenotypic spectrum in which seizures precipitated by fever are prominent and schematic syndrome subdivisions would be inappropriate. SCN1A deletions should be ruled out even in individuals with mild phenotypes.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Guerrini R,Cellini E,Mei D,Metitieri T,Petrelli C,Pucatti D,Marini C,Zamponi Ndoi
10.1111/j.1528-1167.2010.02790.xsubject
Has Abstractpub_date
2010-12-01 00:00:00pages
2474-7issue
12eissn
0013-9580issn
1528-1167journal_volume
51pub_type
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