Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

ABSTRACT:

Objective

To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis.

Methods

We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with EAF (including all the probands and 5 relatives) to identify single nucleotide variants, small insertions/deletions, and copy number variants.

Results

WES revealed likely pathogenic variants in genes that had not been previously associated with EAF: a CNTNAP2 intragenic deletion, 2 truncating mutations of DEPDC5, and a missense SCN1A change.

Conclusions

EAF is a clinically

SUBMITTER: Pippucci T 

PROVIDER: S-EPMC4821078 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature