Author

Thais dos Santos Rohde

Hospital São Paulo

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Neuroscience· 1

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Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1

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Ann-Kathrin Huber· 1 shared Emanuel H. W. BruckischiD· 1 shared Filip LiebschiD· 1 shared Günter SchwarziD· 1 shared Marcelo de Melo AragãoiD· 1 shared Mateus Oliveira Torres· 1 shared

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2026-2026 · peak 1/yr

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1 shared paperNeuroscience

Ann-Kathrin Huber

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1 paper

Recent·Most cited

NeuroscienceEMBO Molecular MedicinePeer-reviewedJun 30, 2026

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

Emanuel H. W. Bruckisch, Marcelo de Melo Aragão, Thais dos Santos Rohde…·Filip Liebsch

The paper identifies a de novo G134R mutation in gephyrin that impairs oligomerization, phase separation, and synaptic clustering, contributing to developmental epileptic encephalopathy.

DOI 10.1038/s44321-026-00474-w

humanproteomics

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