Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Epilepsia ; 51(12): 2449-52, 2010 Dec.
Article in English | MEDLINE | ID: mdl-21204804

ABSTRACT

We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epilepsy. In all patients, the etiology was unknown, but ARX and CDKL5 mutations were negative in all cases. All coding exons of STXBP1 were analyzed by direct-sequencing. Two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively. No de novo or deleterious mutations in STXBP1 were found in the remaining 84 patients with various types of symptomatic epilepsies. This is the first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy. STXBP1 analysis should be considered as an etiology of symptomatic West syndrome without explainable cause.


Subject(s)
Munc18 Proteins/genetics , Mutation/genetics , Spasms, Infantile/genetics , Asian People/genetics , Child , Cohort Studies , Female , Haploinsufficiency/genetics , Humans , Infant , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Lennox Gastaut Syndrome , Male , Mutation, Missense/genetics , Spasms, Infantile/diagnosis
SELECTION OF CITATIONS
SEARCH DETAIL
...