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Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.Human Molecular Genetics|May 9, 2015
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxiaJohn A Damiano, Zaid Afawi, Melanie Bahlo, et al.Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.Annals of Neurology|October 28, 2015
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyMichael G Ricos, Bree L Hodgson, Tommaso Pippucci, et al.American Journal of Human Genetics|July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic EpilepsyMichael S Hildebrand, Nicole G Griffin, John A Damiano, et al.Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.Genetics in Medicine Open|December 13, 2024
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin, Pauline Burger, Timothée Mazzucotelli, et al.Neurology|August 27, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrumYue-Hua Zhang, Rosemary Burgess, Jodie P Malone, et al.Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.Pageof 67