Author

Hui Xiao

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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

TAF1 missense variants are established as a novel cause of infantile epileptic spasm syndrome—a previously unrecognized phenotype—thereby expanding the epileptic phenotype of TAF1‐related disorders.

Hui Xiao, Chang-Ning Xie, P. Peng et al. · Human Mutation · 0 citations