Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

ABSTRACT:

Objective

Early onset drug-resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure-free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort with drug-resistant epilepsy and evaluate whether the findings can provide information on patient management.

Methods

We include patients with drug-resistant epilepsy onset before 18 years of age. Singleton clinical chromosomal microarray (CMA) followed by whole exome sequencing (WES) was performed using genomic DNA. In the first-tier analysis of the exome data, we aimed to identify disease-causing mutations in 546 genes known to cause, or to be associated with, epilepsy. For negat

SUBMITTER: Tsang MH 

PROVIDER: S-EPMC6398105 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature