Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy
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Developmental and epileptic encephalopathies (DEEs) are severe early-onset disorders featuring refractory seizures, abnormal EEGs, and developmental delays. Clinically and etiologically heterogeneous, they include subtypes such as Dravet syndrome and EIMFS. An... ...
