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DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder
Sahil Mehta 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.1
Developmental and epileptic encephalopathies are rare neurodevelopmental disorders characterized by early onset intractable seizures and frequent epileptiform activity on electroencephalogram associated with developmental delay or regression. The advent of next-generation sequencing has paved the way for discovering new genes responsible for these catastrophic epilepsy syndromes.