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.