Articles with "encephalopathy additional" as a keyword



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

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2024

Abstract: 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… read more here.

Keywords: kcnq2 epileptic; encephalopathy additional; responsive kcnq2; epileptic encephalopathy ... See more keywords