Open access
Jan 2026
Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development
Background Pathogenic variants in TAF1 have previously been associated with X‐linked intellectual disability and X‐linked dystonia‐parkinsonism. Epilepsy is observed in approximately 24.4% of affected individuals, ranging from focal seizures to generalized seizures including either tonic‐clonic, tonic, myoclonic, atoni...
Hui Xiao, Chang-Ning Xie, P. Peng et al.
· Human Mutation · 0 citations