Article

Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy

2026-01-09

Abstract excerpt

<h4>ABSTRACT</h4> Epilepsy, a common neurological disorder is frequently linked to genetic variants in synaptic proteins. Here, we describe a de novo pathogenic missense variant in the gephyrin G-domain (G134R) identified in an epileptic patient with developmental delay and seizures. Functional analyses reveal that G134R disrupts higher-order oligomerization, leading to impaired liquid-liquid phase separation (L...

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Literature Corpus work: 13056052-f779-5683-8779-05bec720918d
DOI: 10.64898/2026.01.09.698633

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