Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Original research article by N.M. Allen et al. (2016).

Read the article here.

Whole-exome sequencing was done on 50 children with unexplained early onset epileptic encephalopathies (EOEEs), aiming to target epilepsy-associated genes. Having an epileptic encephalopathy can impact neurological development and can be linked to cognitive and behavioral disturbances. This study identified disease causing genetic changes in 11 children, one of whom was found to have a new (de novo) variant in the SCN2A gene. The child exhibited brain abnormalities from birth, severe intellectual disability (ID), abnormal muscle tone, and seizures while awake and asleep. Future studies aimed at developing a list of genes associated with EOEEs through whole exome sequencing will allow clinicians to provide patient-specific therapies and improve overall treatment.