ArticleEpilepsia2024
Early life seizures and epileptic spasms in STXBP1-related disorders.
Article in Epilepsia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study.Epilepsia · 2026Observational
- Article
- Cognitive and Motor Dysfunction in STXBP1 R406H Mice.Journal of molecular neuroscience : MN · 2026Article
- Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.Brain : a journal of neurology · 2026Article
- Clinical signatures of SYNGAP1-related disorders through data integration.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Deciphering the Natural History ofNeurology · 2025Article
- A Longitudinal Exploration ofNeurology. Genetics · 2025Review
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- A De Novo Splicing Mutation ofInternational journal of molecular sciences · 2024Article
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveIndividuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early onset seizures and antiseizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory are poorly understood, limiting informed and anticipatory treatment, as well as trial design.
methodsWe retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1 developmental and epileptic encephalopathy (DEE) with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response.
resultsWe included 61 individuals with early onset seizures, 29 of whom had epileptic spasms. Individuals with neonatal seizures were likely to have continued seizures after the neonatal period (25/26). The risk of developing epileptic spasms was not increased in individuals with neonatal seizures or early infantile seizures (21/41 vs. 8/16, odds ratio [OR] = 1, 95% confidence interval [CI] = .3-3.9, p = 1). We did not find any ASM associated with the development of epileptic spasms following prior seizures. Individuals with prior seizures (n = 16/21, 76%) had a higher risk of developing refractory epileptic spasms (n = 5/8, 63%, OR = 1.9, 95% CI = .2-14.6, p = .6). Individuals with refractory epileptic spasms had a later onset of epileptic spasms (n = 20, median = 20 weeks) compared to individuals with nonrefractory epileptic spasms (n = 8, median = 13 weeks, p = .08). SIGNIFICANCE: We provide a comprehensive assessment of early onset seizures in STXBP1-DEE and show that the risk of epileptic spasms is not increased following a prior history of early life seizures, nor by certain ASMs. Our study provides baseline information for targeted treatment and prognostication in early life seizures in STXBP1-DEE.
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