Hiltrud Muhle

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Heather C. Mefford, Andrew J. Sharp, Michel Guipponi et al. · Nature Genetics · 2009 · 553 citations · Full text

Neurobiology Of Disease, Psychiatric Genetics, Neurology +5

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek et al. · Nature Communications · 2018 · 493 citations · Full text

Epilepsy Therapies, Genetics, Genetic Epidemiology +22

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Heather C. Mefford, Hiltrud Muhle, P Ostertag et al. · PLoS Genetics · 2010 · 463 citations · Full text

Genome-wide Association Study, Allelic Variant, Genetic Disorder +13

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Carolien G. F. de Kovel, Holger Trucks, Heather C. Mefford et al. · Brain · 2009 · 447 citations · Full text