ArticleEpileptic disorders : international epilepsy journal with videotape2025
TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.
Article in Epileptic disorders : international epilepsy journal with videotape, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review.Life (Basel, Switzerland) · 2026Review
- TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.Epileptic disorders : international epilepsy journal with videotape · 2025Article
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Abstract
Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types. We report on an infant with a TUBA1A variant presenting with an evolving epileptic encephalopathy. Initially, this patient presented with infantile epileptic spasms syndrome, with the eventual appearance of atypical absence seizures before the age of 1 year. We discuss the initial diagnostic uncertainty that was raised by the finding of early onset absence epilepsy and review the other TUBA1A-related seizure types reported in the literature.
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