< Terug naar vorige pagina

Publicatie

Genetic heterogeneity in infantile spasms

Tijdschriftbijdrage - e-publicatie

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), GNA01 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBLIXR1 (n = 1), and K1F1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.
Tijdschrift: Epilepsy research
ISSN: 0920-1211
Volume: 156
Jaar van publicatie:2019
Trefwoorden:A1 Journal article
BOF-keylabel:ja
BOF-publication weight:1
CSS-citation score:2
Auteurs:International
Authors from:Higher Education
Toegankelijkheid:Closed