Lethal Neonatal Rigidity and Multifocal Convulsion Syndrome Case With a New Mutation in BRAT1

In this report, an RMFSL case, who died in the 10th month of the life, with rigidity, drug-resistant myoclonic seizures in the face and extremities and, significant motor delays is presented. The exon sequence was determined and a new homozygous mutation (C.2230_2237dupAACATGC) was detected. This RMFSL case with a homozygous mutation in BRAT1 gene, is the fourth one in the literature and the first one being reported from a Turkish family.
Source: Epilepsy and Behavior Case Reports - Category: Neurology Source Type: research