A novel mutation in SLC1A3 gene associated with episodic ataxia

Episodic ataxia (EA) is an autosomal dominant genetically heterogeneous group of disorders characterized by episodes of incoordination and imbalance. Mutations have been mainly associated to KCNA1 and CACNA1A genes, causing EA1 and EA2. Mutations in other genes, CACNB4 and SLC1A3, have been identified in very few cases, causing EA5 and EA6. Here we describe a patient with episodic ataxia phenotype carrying a novel mutation in SLC1A3 gene, encoding for a glial glutamate transporter (EAAT1).