Kevin Lüthy

4PUBLICATIONS
150CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Vision science
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Publications (4)

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|May 22, 2025
Functional characterization of a human epilepsy-associated gene network reveals metabolic regulation as a critical factor underlying seizure susceptibilities.

Jingyi Long, Spencer G Jones, Ana Serna

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Nov 05, 2016
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.

Baptiste Fischer, Kevin Lüthy, Jone Paesmans

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Frequent Collaborators

2 joint publications

Caroline Nava

2 joint publications

Benjamin Cogne

2 joint publications

Amandine Santini

2 joint publications

Elsa Leitão