Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

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 blocker...

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Bibliographic Details
Main Authors: Jun Chen, Qiuji Tao, Lijuan Fan, Yajun Shen, Jinfeng Liu, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
epileptic encephalopathy
gene mutation
KCNQ2
pyridoxine
pyridoxine‐responsive
Online Access:https://doi.org/10.1002/mgg3.2024

Internet

https://doi.org/10.1002/mgg3.2024

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