Showing results (61-70 of 79) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
Epilepsia|January 5, 2007
Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003Stephan A Koenig, Deike Buesing, Elke Longin, et al.
Brain : a Journal of Neurology|June 26, 2008
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1Arvid Suls, Peter Dedeken, Karolien Goffin, et al.
Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Epilepsia|October 17, 2025
Value of ultra-high-field MRI in patients with drug-resistant focal epilepsy and negative 3T MRI (EpiUltraStudy): Diagnostic gain of 7T structural analysisRick H G J van Lanen, Daniel Uher, Christianne M C Hoeberigs, et al.
Pageof 8