Genetic heterogeneity in infantile spasms

Epilepsy Research
Alison M MuirEuroEPINOMICS-RES NLES working group, Sarah Weckhuysen

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.

Citations

Feb 28, 2020·Annals of Clinical and Translational Neurology·Stéphane AuvinPierandrea Muglia
Jul 8, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Xiang-Dong Zeng, Wen-Guang Hu
Aug 5, 2020·BMC Neurology·G E RudenskayaA V Polyakov
Mar 9, 2021·Epilepsia Open·UNKNOWN CURE Infantile Spasms Consortium, CURE StaffSloka S Iyengar
Apr 21, 2021·Biochimica Et Biophysica Acta. General Subjects·Federica ConteDirk J Lefeber
Sep 7, 2021·Journal of Neurology·Stefania Della VecchiaFilippo Maria Santorelli
Sep 12, 2021·Human Molecular Genetics·Dandan WangBrock Grill

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