Clinical phenotypes of infantile onset CACNA1A-related disorder

•Paroxysmal non-epileptic events are the most common presenting phenotype.•Paroxysmal tonic upward gaze is the most common paroxysmal event in infancy.•Episodic ataxia is the most common paroxysmal event in childhood.•Cognitive difficulties are common and associated with congenital cerebellar ataxia.•Epilepsy is not rare and febrile convulsions in association with CCA may indicate risk of epilepsy in later childhood.