NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

Epileptic encephalopathy (EE) describes a group of neurological disorders in which epilepsy is accompanied by an insult to the developing brain. Here we studied an extended family suffering from an early infantile form of EE, where the onset is within the first few months of life. We uncovered a mutation in a gene called NECAP1, which is involved in shuttling various proteins to their destinations within the brain. The mutation causes severe reduction in NECAP1 levels. Further analysis demonstrated that NECAP1 protein is widely present in the central nervous system of developing mouse embryos. This report highlights for the first time the involvement of this shuttling system with early infantile EE. (By Dr. Anas M Alazami, http://jmg.bmj.com/content/early/2014/01/07/jmedgenet-2013-102030 )