Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

This report expands the genetic landscape of EOEE-BS. This is the first case of this specific variant in which Epidiolex was administered, which along with Ketogenic diet aided in controlling patient's super refractory status epilepticus. PMID: 32531460 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32531460?dopt=Abstract

Source: European Journal of Medical Genetics - June 8, 2020 Category: Genetics & Stem Cells Authors: Gupta S, Schwab M, Valdez-Gonzalez K, Segal E Tags: Eur J Med Genet Source Type: research