Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.

ABSTRACT:

Objective

Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE).

Methods

We have selected a cohort of 31 patients with seizure cryptogenic NIEE and seizure onset before 24 months. All investigations including metabolic work

SUBMITTER: Fung CW 

PROVIDER: S-EPMC5719849 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature