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Epileptic Disorders : International Epilepsy Journal with Videotape|September 14, 2016
GOSR2: a progressive myoclonus epilepsy geneLeanne M Dibbens, Guido Rubboli
Journal of Medical Genetics|January 25, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropySarah E Heron, Leanne M Dibbens
The Application of Clinical Genetics|June 19, 2013
Genetic variations and associated pathophysiology in the management of epilepsyJohn C Mulley, Leanne M Dibbens
Epilepsia|November 5, 2011
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutationsGuido Rubboli, Silvana Franceschetti, Samuel F Berkovic, et al.
Annals of Clinical and Translational Neurology|March 9, 2019
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutationsGuido Rubboli, Giuseppe Plazzi, Fabienne Picard, et al.
International Journal of Molecular Sciences|December 11, 2022
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal ActivityGrigori Y Rychkov, Zeeshan Shaukat, Chiao Xin Lim, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 11, 2019
Encephalopathy related to Status Epilepticus during slow Sleep: current concepts and future directionsCarlo Alberto Tassinari, Guido Rubboli
American Journal of Medical Genetics. Part A|August 3, 2016
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblingsNicholas J Smith, Jill Lipsett, Leanne M Dibbens, et al.
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