Daniela Bulla-Miely

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...