| Literature DB >> 31394400 |
Alison M Muir1, Candace T Myers1, Nancy T Nguyen1, Julia Saykally1, Dana Craiu2, Peter De Jonghe3, Ingo Helbig4, Dorota Hoffman-Zacharska5, Renzo Guerrini6, Anna-Elina Lehesjoki7, Carla Marini6, Rikke S Møller8, Jose Serratosa9, Katalin Štěrbová10, Pasquale Striano11, Sarah von Spiczak12, Sarah Weckhuysen3, Heather C Mefford13.
Abstract
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.Entities:
Keywords: Epilepsy; Genetic diagnosis; Infantile spasms; Targeted sequencing; West syndrome
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Year: 2019 PMID： 31394400 PMCID： PMC6814289 DOI： 10.1016/j.eplepsyres.2019.106181
Source DB: PubMed Journal: Epilepsy Res ISSN： 0920-1211 Impact factor: 3.045