Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

ABSTRACT:

Background

Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal-onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first-line treatment with sodium channel blockers. Vitamin B6, either pyridoxine or pyridoxal 50-phosphate, has been demonstrated to improve seizure control in intractable epilepsy.

Methods

Here, we collected and summarized the clinical data for four independent cases diagnosed with pyridoxine-responsive epileptic encephalopathy, and their exome sequencing data. Moreover, we reviewed all published cases and summarized the clinical features, genetic variants, and treatment of pyridoxine-responsive KCNQ2 epileptic encephalopathy.

Resul

SUBMITTER: Chen J 

PROVIDER: S-EPMC9544210 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature