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Neuron|May 8, 2018
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 FamiliesPadhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, et al.
Plos Genetics|May 8, 2015
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesDennis Lal, Ann-Kathrin Ruppert, Holger Trucks, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 5, 2020
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease PatientsElif Irem Sarihan, Eduardo Pérez-Palma, Lisa-Marie Niestroj, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
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