Electroclinical Phenotype-Genotype Homogeneity in Drug-Resistant "Generalized" Tonic-Clonic Seizures of Early Childhood.

CONCLUSIONS: These cases suggest that children with early-onset drug-resistant "generalized" epilepsy are likely to have a genetic basis although the presentation may not be typical of Dravet syndrome. Hence, genetic testing for SCN1A variants is recommended in children with drug-resistant MRI negative focal-onset/generalized-onset bilateral tonic-clonic seizures before subjecting them to exhaustive presurgical workup and to guide appropriate treatment and prognostication. PMID: 32880473 [PubMed - as supplied by publisher]
Source: Clinical EEG and Neuroscience - Category: Neuroscience Authors: Tags: Clin EEG Neurosci Source Type: research