ArticleEpilepsy research2019
Genetic heterogeneity in infantile spasms.
Article in Epilepsy research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Journal of neurology · 2022Pooled it
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
- kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation.Epilepsia · 2025Article
- Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.BMC medical genomics · 2025Article
- Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.Biomolecules · 2025Article
- Refining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches.Epilepsia open · 2025Article
- Association between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.Scientific reports · 2024Article
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Epilepsy, EEG and chromosomal rearrangements.Epilepsia open · 2024Review
- Cryo-EM unveils kinesin KIF1A's processivity mechanism and the impact of its pathogenic variant P305L.Nature communications · 2024Article
- The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.Orphanet journal of rare diseases · 2024Article
- Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder.Irish journal of medical science · 2023Article
- Complexity in Genetic Epilepsies: A Comprehensive Review.International journal of molecular sciences · 2023Review
- GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.Epilepsy & behavior reports · 2023Article
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.Neurology · 2022Observational
- Rare variant of TBL1XR1 in West syndrome: A case report.Molecular genetics & genomic medicine · 2022Review
- CDKL5 deficiency disorder: clinical features, diagnosis, and management.The Lancet. Neurology · 2022Review
- Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.Human molecular genetics · 2022Article
- Single-Molecule Studies on the Motion and Force Generation of the Kinesin-3 Motor KIF1A.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Whole genomic approach in mutation discovery of infantile spasms patients.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
19 authors at 12 institutions in 10 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.