Rigidity with Multifocal Seizure Syndrome, Lethal Neonatal in a Lebanese Neonate. A Rare Case Report

Rigidity with Multifocal Seizure Syndrome, Lethal Neonatal is a neonatal epileptic syndrome OMIM 614498, presenting early in newborn life as drug resistant myoclonus, generalized rigidity and delayed milestones. This syndrome is strongly associated with mutations of the BRAT1 (Breast cancer 1-associated Ataxia Telangiectasia mutated activation-1 protein). In this report we present a case of a Lebanese male newborn with drug resistant convulsions since birth. The whole exome sequencing revealed a mutation in BRAT1 gene. To our knowledge this is the sixth reported case linking this clinical presentation to a homozygous BRAT1 mutation.c