A survey of seizures and current treatments in 15q duplication syndrome

作者：Kerry D. Conant, Brenda Finucane, Nicole Cleary, Ashley E. Martin, Candace Muss, Mary E. Delany, Erin K. Murphy, Olivia Rabe, Kadi Luchsinger, Sarah Spence, Carolyn Schanen, Orrin Devinsky, Edwin H. Cook, Janine M. LaSalle, Lawrence T. Reiter, Ronald L. Thibert · 发表于：Epilepsia · 年份：2014 · DOI：10.1111/epi.12530 · 被引用次数：110 · 研究领域：Genomic variations and chromosomal abnormalities、Williams Syndrome Research、Autism Spectrum Disorder Research

OBJECTIVE: Seizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal of this study was to examine the phenotypes and treatments of seizures in Dup15q in a large population. METHODS: A detailed electronic survey was conducted through the Dup15q Alliance containing comprehensive questions regarding seizures and their treatments in Dup15q. RESULTS: There were 95 responses from Dup15q families. For the 83 with idic(15), 63% were reported to have seizures, of which 81% had multiple seizure types and 42% had infantile spasms. Other common seizure types were tonic-clonic, atonic, myoclonic, and focal. Only 3 of 12 individuals with int dup(15) had seizures. Broad spectrum antiepileptic drugs (AEDs) were the most effective medications, but carbamazepine and oxcarbazepine were also effective, although typical benzodiazepines were relatively ineffective. There was a 24% response rate (>90% seizure reduction) to the first AED tried. For those with infantile spasms, adrenocorticotropic hormone (ACTH) was more effective than vigabatrin. SIGNIFICANCE: This is the largest study assessing seizures in Duplication 15q syndrome, but because this was a questionnaire-based study with a low return rate, it is susceptible to bias. Seizures are common in idic(15) and typically difficult to control, often presenting with infantile spasms and progressing to a Lennox-Gastaut-type syndrome. Seizures in those with int dup(15) are less common, with a frequency simila...