KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature
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Background: Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in KCTD7 cause a rare autosomal recess... ...
