Article

Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey

2021-12-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome characterized by early-onset developmental delay, cognitive impairment, and intractable seizures. Variants in the SCN8A gene are associated with a broad phenotypic spectrum and variable disease severity. A caregiver survey, solicited by the advocacy group The Cute Syndrome Foun...

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Literature Corpus work: ffc83163-cd5c-5932-86ca-b026d4d79da4
DOI: 10.1101/2021.11.29.21267027

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