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Neurology|September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilitySaul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Frontiers in Neurology|October 3, 2022
Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot studyShreya Louis, Robyn M Busch, Dennis Lal, et al.
Brain : a Journal of Neurology|May 24, 2021
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neuronsFelicia Mermer, Sarah Poliquin, Kathryn Rigsby, et al.
Epilepsia|May 7, 2026
The International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) Portal: An open source resource for neuropsychological research in epilepsyRobyn M Busch, Tobias Brünger, Kayela Arrotta, et al.
Brain : a Journal of Neurology|August 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesTobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, et al.
Plos One|September 17, 2013
RBFOX1 and RBFOX3 mutations in rolandic epilepsyDennis Lal, Eva M Reinthaler, Janine Altmüller, et al.
Acta Neuropathologica|March 5, 2025
Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matterErica Cecchini, Simon Geffers, Roland Coras, et al.
Human Molecular Genetics|June 27, 2023
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-functionScott J Myers, Hongjie Yuan, Riley E Perszyk, et al.
Nature Communications|July 20, 2023
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, et al.
Brain : a Journal of Neurology|December 17, 2021
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohortDavid Baez-Nieto, Andrew Allen, Seth Akers-Campbell, et al.
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