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Developmental Medicine and Child Neurology|June 9, 2011
Milder phenotypes of glucose transporter type 1 deficiency syndromeGeetha Anand, Anuruddha Padeniya, Donncha Hanrahan, et al.Neurobiology of Disease|December 29, 2024
Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathyMiaomiao Mao, Nikola Jancovski, Yafit Kushner, et al.Epilepsia|July 17, 2018
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsyNatasha E Schoeler, Costin Leu, Simona Balestrini, et al.Annals of Neurology|September 16, 2015
Quinidine in the treatment of KCNT1-positive epilepsiesMohamad A Mikati, Yong-Hui Jiang, Michael Carboni, et al.Journal of Speech, Language, and Hearing Research : JSLHR|December 5, 2023
Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in StutteringSarah Horton, Victoria Jackson, Jessica Boyce, et al.Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.Human Molecular Genetics|August 22, 2013
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsyDoug Speed, Clive Hoggart, Slave Petrovski, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|May 26, 2007
Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya, J Helen Cross, Ingmar Blümcke, et al.Orphanet Journal of Rare Diseases|September 28, 2015
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patientsEleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, et al.Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.Pageof 3