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Advanced filters: Author: Lucia Privitera Clear advanced filters

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Camille Engel
Michaela Rendek
Juliette Piard
Research25 Jun 2025
European Journal of Human Genetics

Volume: 33, P: 989-996
Improved Long-Term Memory via Enhancing cGMP-PKG Signaling Requires cAMP-PKA Signaling

Eva Bollen
Daniela Puzzo
Jos Prickaerts
Research12 May 2014
Neuropsychopharmacology

Volume: 39, P: 2497-2505