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Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.

Epilepsia - 1 Feb 2022

Kovermann Peter, Kolobkova Yulia, Franzen Arne, Fahlke Christoph

Abstract excerpt

OBJECTIVE: Mutations in the gene solute carrier family member 1A2 (SLC1A2) encoding the excitatory amino acid transporter 2 (EAAT2) are associated with severe forms of epileptic encephalopathy. EAAT2 is expressed in glial cells and presynaptic nerve terminals and represents the main l-glutamate uptake carrier in the mammalian brain. It does not only function as a secondary active glutamate transporter, but also...

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PMID: 34961934
DOI: 10.1111/epi.17154

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