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Epilepsia Open|October 30, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotypeGuillem de Valles-Ibáñez, Michael S Hildebrand, Melanie Bahlo, et al.Epilepsia|May 19, 2007
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutationCristina Gomez-Abad, Zaid Afawi, Amos D Korczyn, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 13, 2022
Current practice in diagnostic genetic testing of the epilepsiesIlona Krey, Konrad Platzer, Alina Esterhuizen, et al.The Lancet. Neurology|November 25, 2018
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosisSara E Mole, Glenn Anderson, Heather A Band, et al.The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 22, 2023
Retinal Dysfunction in a Mouse Model of HCN1 Genetic EpilepsyDa Zhao, Paulo Pinares-Garcia, Chaseley E McKenzie, et al.Neurology|November 2, 2022
Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet SyndromeKatherine B Howell, Sophie Butcher, Amy L Schneider, et al.Developmental Medicine and Child Neurology|June 10, 2021
Severe speech impairment is a distinguishing feature of FOXP1-related disorderRuth O Braden, David J Amor, Simon E Fisher, et al.Epilepsia|May 12, 2018
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyKatherine B Howell, Stefanie Eggers, Kim Dalziel, et al.Journal of the Neurological Sciences|October 6, 2022
Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressorsDhamidhu Eratne, Michael Keem, Courtney Lewis, et al.Pageof 74