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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.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.Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.The New England Journal of Medicine|October 26, 2017
Histopathological Findings in Brain Tissue Obtained during Epilepsy SurgeryIngmar Blumcke, Roberto Spreafico, Gerrit Haaker, et al.Brain : a Journal of Neurology|September 10, 2013
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1ADalia Kasperaviciute, Claudia B Catarino, Mar Matarin, et al.Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Pageof 8