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Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Seizure|January 29, 2016
Effectiveness of antiepileptic therapy in patients with PCDH19 mutationsJan Lotte, Thomas Bast, Peter Borusiak, et al.
Pharmacogenomics|April 21, 2020
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association studyStefan Wolking, Herbert Schulz, Anne T Nies, et al.
Epilepsia|March 7, 2020
Testing association of rare genetic variants with resistance to three common antiseizure medicationsStefan Wolking, Claudia Moreau, Anne T Nies, et al.
Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.
Molecular Syndromology|October 27, 2016
Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesRikke S Møller, Line H G Larsen, Katrine M Johannesen, et al.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, 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.
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