Genetic heterogeneity in infantile spasms
Copyright policy )Genetic heterogeneity in infantile spasms
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.
- Washington State University United States
- University of Helsinki Finland
- University of Florence Italy
- University Hospital Schleswig-Holstein Germany
- Children's Hospital of Philadelphia United States
Epilepsy, Infantile spasms, Monosaccharide Transport Proteins, Epilepsy; Genetic diagnosis; Infantile spasms; Targeted sequencing; West syndrome, Infant, Kinesins, Receptors, Cytoplasmic and Nuclear, West syndrome, GTP-Binding Protein alpha Subunits, Gi-Go, Repressor Proteins, Shab Potassium Channels, Genetic diagnosis, Child, Preschool, Mutation, Targeted sequencing, Humans, Human medicine, Spasms, Infantile
Epilepsy, Infantile spasms, Monosaccharide Transport Proteins, Epilepsy; Genetic diagnosis; Infantile spasms; Targeted sequencing; West syndrome, Infant, Kinesins, Receptors, Cytoplasmic and Nuclear, West syndrome, GTP-Binding Protein alpha Subunits, Gi-Go, Repressor Proteins, Shab Potassium Channels, Genetic diagnosis, Child, Preschool, Mutation, Targeted sequencing, Humans, Human medicine, Spasms, Infantile
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