Kevin Luthy
Essen, NW, Germany
Last Updated: 09/26/2026
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Found 10 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Functional characterization of a human epilepsy-associated gene network reveals metabolic regulation as a critical factor underlying seizure susceptibilities.
Journal: Disease models & mechanisms
Published: February 02, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Investigating rare and ultrarare epilepsy syndromes with Drosophila models.
Journal: Faculty reviews
Published: March 04, 2021
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Journal: Brain : a journal of neurology
Published: December 11, 2018
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Journal: Nature structural & molecular biology
Published: January 25, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Journal: Neurology
Published: November 25, 2015
The irre cell recognition module (IRM) protein Kirre is required to form the reciprocal synaptic network of L4 neurons in the Drosophila lamina.
Journal: Journal of neurogenetics
Published: April 05, 2014
Functional study of mammalian Neph proteins in Drosophila melanogaster.
Journal: PloS one
Published: February 13, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026