Condition: Episodic Ataxia


rs121909323 in CACNA1A gene and Episodic Ataxia PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs796053124 in SCN2A gene and Episodic Ataxia PMID 20956790 2010 SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.