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Dravet syndrome is a severe, childhood-onset epileptic encephalopathy characterized by febrile seizures progressing to pharmacoresistant epilepsy. Many cases are linked to a heterozygous loss-of-function mutation in the SCN1A gene, which codes for an alpha subunit of the voltage-gated sodium channel.1 Life expectancy is dramatically shortened, with status epilepticus and sudden unexplained death in epilepsy the most frequent causes of death.2 Consequently, studies describing the natural history of Dravet syndrome into adulthood are rare. Additional neurologic symptoms have been recognized as these patients age, including ataxia, gait impairment, anterocollis, and parkinsonism, the last of which may be levodopa-responsive.3,4 It remains unclear, however, what underlies the dopaminergic pathway dysfunction in individuals with Dravet syndrome.
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Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received February 8, 2019.
- Accepted in final form June 26, 2019.
- © 2019 American Academy of Neurology
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