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C. Villmann

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Open access Jul 2026

Expanded molecular pathomechanisms of GlyR α2 subunit variants in neurodevelopmental disorders and epileptic encephalopathy

These findings expand the clinical and mechanistic spectrum of GlyR α2 variants, identify a key determinant of picrotoxin binding, and highlight unresolved roles of intracellular protein-protein interaction motifs in GlyR α2 function.

Sean D. Fraser, Anna-Lena Wiessler, Wing Yan Jessica Choi et al. · 0 citations