GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

ABSTRACT:

Objective

To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing.

Methods

We performed whole-exome sequencing in 13 SCN1A-negative patients with Dravet syndrome and targeted resequencing in 67 additional patients to identify new genes for this disorder.

Results

We detected disease-causing mutations in 2 novel genes for Dravet syndrome, with mutations in GABRA1 in 4 cases and STXBP1 in 3. Furthermore, we identified 3 patients with previously undetected SCN1A mutations, suggesting that SCN1A mutations occur in even more than the currently accepted ∼ 75% of cases.

Conclusions

We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. Our

SUBMITTER: Carvill GL 

PROVIDER: S-EPMC4001207 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature