Open AccessConfirming the pathogenicity of NECAP 1 in early onset epileptic encephalopathy
Author(s) -
Alsahli Saud,
AlTwaijri Waleed,
Al Mutairi Fuad
Publication year - 2018
Publication title -
epilepsia open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.247
H-Index - 16
ISSN - 2470-9239
DOI - 10.1002/epi4.12263
Subject(s) - epilepsy , encephalopathy , pathogenicity , myoclonic epilepsy , phenotype , medicine , gene , mutation , biology , bioinformatics , neuroscience , genetics , microbiology and biotechnology
Summary Early onset epileptic encephalopathy ( EOEE ) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [ EIEE ]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next‐generation sequencing has accelerated the process of novel gene discovery. Many of the previously published candidate genes are still pending confirmatory reports or functional studies. Although most of the genes involved are ion channels (channelopathies), multiple other pathways have been implicated as well. NECAP 1 is a key element in clathrin‐mediated endocytosis and has been reported previously to cause EOEE in a Saudi family. We report another family with the same variant confirming the pathogenicity of this variant as a Saudi founder mutation, further delineate its phenotype, and propose that it causes EOEE instead of EIEE .