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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|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Neurology|July 2, 2017
DNM1 encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
Brain : a Journal of Neurology|October 22, 2009
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesCarolien G F de Kovel, Holger Trucks, Ingo Helbig, 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.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
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