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.