severe myoclonic epilepsy in infancy (SMEI); Dravet syndrome

^[1]^[2]^[3]^[4]

Epidemiology

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

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.

↑ OMIM https://mirror.omim.org/entry/607208
↑ ^2.0 ^2.1 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 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28538134 <Internet> 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 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28538129 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMe1702205
↑ ^3.0 ^3.1 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