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Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.Cell Reports|April 8, 2024
Lack of functional TCR-epitope interaction is associated with herpes zoster through reduced downstream T cell activationMarlies Boeren, Nicky de Vrij, My K Ha, et al.Pediatric Rheumatology Online Journal|October 17, 2022
Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases - a proof of concept studyMy Kieu Ha, Esther Bartholomeus, Luc Van Os, 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.American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, 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.The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, 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.Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.Pageof 7