Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

ABSTRACT:

Background

ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments.

Aim

We aimed to describe the manifestations of early onset severe ATP1A2-related epileptic encephalopathy and its underlying mutations in a cohort of seven patients.

Methods

A retrospective chart review of a cohort of seven patients was conducted. Response to open-label memantine therapy, used off-label due to its NMDA receptor antagonist effects, was assessed by the Global Rating Scale of Change (GRSC) and Clinical Global Impression Scale of Improvement (CGI-I) methodologies. Molecular modeling was performed using PyMol program.

Results

SUBMITTER: Moya-Mendez ME 

PROVIDER: S-EPMC7940561 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature