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Epilepsia|June 28, 2019
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in GermanyAdam Strzelczyk, Susanne Schubert-Bast, Thomas Bast, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
Epilepsia|September 27, 2003
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European familiesRoberto Michelucci, Juan Jose Poza, Vito Sofia, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Journal of Community Genetics|March 31, 2019
Linking pre-existing biorepositories for medical research: the PopGen 2.0 NetworkWolfgang Lieb, Gunnar Jacobs, Andreas Wolf, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, 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.
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
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