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U. Hedrich

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Open access Aug 2026

Overactive EAAT1 Cl− channels impair GABAergic tonic inhibition in SLC1A3-associated episodic ataxia

A missense variant in SLC1A3, which results in a proline to arginine substitution in the glial excitatory amino acid transporter 1 (EAAT1), causes a severe form of episodic ataxia type 6, characterized by recurrent attacks of ataxia and epilepsy. EAATs are dual function transport proteins, and the P290R variant reduces...

Yulia Kostritskaia, Daniela Bulla-Miely, Miriam Engels et al. · 0 citations

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