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American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2020
Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic reviewGiovanni Assenza, Mario Tombini, Jacopo Lanzone, 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.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
NPJ Genomic Medicine|September 28, 2023
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsyDelnaz Roshandel, Eric J Sanders, Amy Shakeshaft, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
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