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.
- MeSH
- draslíkové kanály Shab genetika MeSH
- kineziny genetika MeSH
- kojenec MeSH
- křeče u dětí diagnóza genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- předškolní dítě MeSH
- proteiny přenášející monosacharidy genetika MeSH
- proteiny vázající GTP - alfa-podjednotky Gi-Go genetika MeSH
- receptory cytoplazmatické a nukleární genetika MeSH
- represorové proteiny genetika MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
