KCNA1 and Familial paroxysmal ataxia: Recently, Verdura et al. (2020) identified a homozygous pathogenic KCNA1 variant (p.Val368Leu), positioned in the S5–S6 linker, in a patient presenting with seizures and neurodevelopmental disorders in addition to EA1 symptoms, which was the first to be reported to act in a recessive mode of inheritance in KCNA1. The sibling described herein experienced typical EA1 symptoms including episodic ataxia and constant myokymia and unusual phenotypes such as seizures and learning difficulties.