title: Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients.
abstract: To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They analyzed their clinical presentation, electroencephalographic findings, genetic (SCN1A gene) results, and treatment responses and compared the findings to previous reports. The patients presented with all the previously described characteristics of Dravet syndrome. Six of the 7 patients (86%) who were tested for SCN1A mutations had positive results. The best treatment combinations included topiramate, valproate, or the ketogenic diet. Dravet syndrome is a well-defined epileptic syndrome that needs larger recognition, particularly because commercial testing for SCN1A gene mutations is now available in the United States. Despite its reputation for seizure intractability, several treatment options may be particularly helpful, whereas others need to be avoided.
authors.affiliation: Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois 60614-3394, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Korff
authors.forename: Linda
authors.initials: L
authors.lastname: Laux
authors.forename: Kent
authors.initials: K
authors.lastname: Kelley
authors.forename: Joshua
authors.initials: J
authors.lastname: Goldstein
authors.forename: Sookyong
authors.initials: S
authors.lastname: Koh
authors.forename: Douglas
authors.initials: D
authors.lastname: Nordli
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012189:Retrospective Studies; D012720:Severity of Illness Index; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels