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Published in 2025 at "Neuropediatrics"
DOI: 10.1055/a-2668-4602
Abstract: Abstract Disease-causing variants in KCNMA1 are associated with a spectrum of epilepsy and/or movement disorders, often with additional developmental issues or intellectual impairment. Monoallelic gain-of-function variants often lead to paroxysmal nonkinesigenic dyskinesia (PNKD). While the…
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Keywords:
treatment;
variant;
behavioral arrests;
lisdexamfetamine ... See more keywords