Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

ABSTRACT: We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and in 15 controls to investigate whether a quick and cheap molecular diagnosis could be provided. The average number of nonsynonymous and splice site mutations per subject was similar in the two cohorts indicating that, even with relatively small targeted platforms, finding the disease gene is not an univocal process. Our diagnostic yield was 47% with nine cases in which we identified a very likely causative mutation. In most of them no interpretation would have been possible in absence of detailed phenotype and familial information. Seven out of 19 patients had a phenotype suggesting the involvement of a specific gene. Disease-causing m

SUBMITTER: Della Mina E 

PROVIDER: S-EPMC4326720 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature