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Article

Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.

Epilepsia - 1 Sept 2021

Li Wenhui, Schneider Amy L, Scheffer Ingrid E

Abstract excerpt

OBJECTIVE: The classical description of Dravet syndrome, the prototypic developmental and epileptic encephalopathy, is of a normal 6-month-old infant presenting with a prolonged, febrile, hemiclonic seizure and showing developmental slowing after age 1 year. SCN1A pathogenic variants are found in >80% of patients. Many patients have atypical features resulting in diagnostic delay and inappropriate therapy. We...

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Identifiers

PMID: 34338318
DOI: 10.1111/epi.17015
PMCID: PMC9291974

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