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Trends in Neurosciences|April 26, 2018
Progress in Understanding and Treating SCN2A-Mediated DisordersStephan J Sanders, Arthur J Campbell, Jeffrey R Cottrell, et al.
Annals of Neurology|March 3, 2015
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromesEva M Reinthaler, Borislav Dejanovic, Dennis Lal, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, et al.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Neurology|October 28, 2022
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 GeneCarmen Barba, Ingmar Blumcke, Melodie R Winawer, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Epilepsia|May 5, 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trialIngmar Blümcke, Roland Coras, Robyn M Busch, et al.
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