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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Whole-genome SequencingGenetic DisorderGeneticsInfantile Epileptic EncephalopathyNeurologyGenomicsFamily Quartet AffectedDisease Gene IdentificationNeuropathologyMedicineNeurogenetics