A CASE REPORT ON SCN2A-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH APPARENT GAIN-OF-FUNCTION EFFECTS
DOI:
https://doi.org/10.5281/zenodo.13789098Abstract
SCN2A has emerged in recent years as a key causative gene for pediatric epilepsy (1). In addition to epilepsy, SCN2A is also a well-established disease gene associated with other neurological and neurodevelopmental disorders including dystonia and ataxia, autism spectrum disorder, and intellectual disability (ID).
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