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severe myoclonic epilepsy in infancy (SMEI); Dravet syndrome
Epidemiology:
- rare
Genetics:
- associated with defects in SCN1A, GABRG2
Clinical manifestations:
- generalized tonic, clonic, & tonic-clonic seizures initially induced by fever & begin during the first year of life
- later, patients also manifest other seizure types, including absence seizures, myoclonic seizures, & simple seizures & complex partial seizures
- psychomotor development delay is observed around the 2nd year of life
- SMEI is the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus
Management:
- cannabidiol may have some efficacy [2]
- fenfluramine may reduce seizures [3]
- multiple doses of STK-001 an investigational antisense oligonucleotide is designed to upregulate Nav1.1 protein expression from the nonmutant copy of the SCN1A gene to restore Nav1.1 levels.
General
myoclonic epilepsy
Database Correlations
OMIM 607208
References
- OMIM :accession 607208
- Devinsky O, Cross JH, Laux L et al
Trial of Cannabidiol for Drug-Resistant Seizures in the
Dravet Syndrome.
N Engl J Med 2017; 376:2011-2020. May 25, 2017
PMID: 28538134
http://www.nejm.org/doi/full/10.1056/NEJMoa1611618
- Berkovic SF
Cannabinoids for Epilepsy - Real Data, at Last
N Engl J Med 2017; 376:2075-2076. May 25, 2017
PMID: 28538129
http://www.nejm.org/doi/full/10.1056/NEJMe1702205
- Fiore K
Fenfluramine Works in Dravet Syndrome
Seizure reductions seen for former weight-loss agent
in phase III trial.
MedPage Today. Dec 04, 2017
https://www.medpagetoday.com/meetingcoverage/aes/69638
- Lagae L, et al
ZX008 (fenfluramine HCl oral solution) in Dravet syndrome:
Results of a phase III randomized double-blind placebo-
controlled trial
American Epilepsy Society (AES) 2017; Abstract 2.434.
- George J
Antisense Oligonucleotide Shows Potential in Dravet Syndrome.
Investigational STK-001 appears well tolerated in early studies.
MedPage Today December 9, 2022
https://www.medpagetoday.com/meetingcoverage/aes/102175