Refractory epilepsy in PSEN 1 mutation (I83T).

We report the case of a 32 years old man with a family history of early onset AD associated with a PSEN1 mutation in the exon 4 (I83T). The proband's, carrying the mutation, present a refractory epilepsy predating cognitive decline. We discuss the physiopathological mechanisms of epilepsy during AD associated with PSEN 1 mutation, the possibility of linking this epilepsy to the mutation?. PMID: 32241222 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32241222?dopt=Abstract

Source: Neurocase - April 2, 2020 Category: Neurology Authors: Fray S, Rassas A, Messaoud T, Belal S Tags: Neurocase Source Type: research