Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41


rs781379291 in SLC1A2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 PMID 23107647 2012 A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.

PMID 28777935 2017 De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

PMID 24214974 2013 Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.