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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… Click to show full 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 blockers. Vitamin B6, either pyridoxine or pyridoxal 50‐phosphate, has been demonstrated to improve seizure control in intractable epilepsy.
Keywords:
kcnq2 epileptic;
encephalopathy additional;
responsive kcnq2;
epileptic encephalopathy;
pyridoxine responsive;
pyridoxine
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!