A recent description bringing together 534 cases of STXBP1‐related disorders using Human Phenotype Ontology terms has revealed a broader phenotype; ataxia and tremor are common (25% and 24% of cohort respectively) and seizures are described in 89%, but the combined lack of epilepsy or severe learning difficulties remains rare.5 The gene discussed is STXBP1; the disease is cerebellar ataxia.