Similarly, incomplete penetrance and variable expressivity, including isolated ID, were previously reported by Angelini et al in a family with a pathogenic variant in CACNA1A. 9Here, we identified another family with a recurrent CACNA1A pathogenic variant NM_001127222.1:c.4979G>A; p.(Arg1660His), in a proband with GDD, ventriculomegaly, hypotonia, and episodic ataxia. The gene discussed is CACNA1A; the disease is Familial paroxysmal ataxia.