The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.

Abstract excerpt

Genetic variants in the SCN8A gene underlie a wide spectrum of neurodevelopmental phenotypes that range from severe epileptic encephalopathy to benign familial infantile epilepsy to neurodevelopmental delays with or without seizures. A host of additional comorbidities also contribute to the phenotypic spectrum. As a result of the recent identification of the genetic etiology and the length of time it often takes...

Topics

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• Epilepsy
• Epilepsy, Generalized
• NAV1.6 Voltage-Gated Sodium Channel
• Phenotype
• Registries