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

Anis JukkarwalaRamshekhar N MenonE R SuneshAshalatha Radhakrishnan
Published in: Clinical EEG and neuroscience (2020)
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.
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