SLC1A3, solute carrier family 1 member 3, 6507

N. diseases: 109; N. variants: 7
Disease: Progressive cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.010 GeneticVariation disease BEFREE Recently, a mutation in the SLC1A3 gene encoding the glutamate transporter EAAT1 was identified in a patient with severe episodic and progressive ataxia, seizures, alternating hemiplegia, and migraine headache. 19139306 2009