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Human Molecular Genetics|September 6, 2012
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32, , Michael Steffens, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
Neurology|August 22, 2025
Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe EpilepsyJudy Chen, Alexander Ngo, Raul Rodriguez-Cruces, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
Global Socioeconomic Context and Brain Ageing in Epilepsy: an ENIGMA-Epilepsy studyHeath R Pardoe, Orrin Devinsky, Jemima Robson Bbiomed, et al.
The Lancet. Neurology|July 24, 2018
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Neuropathology and Applied Neurobiology|August 13, 2021
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsiesAndre Altmann, Mina Ryten, Martina Di Nunzio, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Nature Genetics|May 21, 2025
Genome-wide association study of long COVIDVilma Lammi, Tomoko Nakanishi, Samuel E Jones, et al.
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