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Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al.
The Lancet. Neurology|May 17, 2024
Climate change and disorders of the nervous systemSanjay M Sisodiya, Medine I Gulcebi, Francesco Fortunato, et al.
Cell Reports|June 1, 2017
Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALSClaire E Hall, Zhi Yao, Minee Choi, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 25, 2019
Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent SeizuresVamshidhar R Vangoor, Cristina R Reschke, Ketharini Senthilkumar, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
Science Translational Medicine|May 20, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonismJoanne Ng, Serena Barral, Carmen De La Fuente Barrigon, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 26, 2020
A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsyMorten T Venø, Cristina R Reschke, Gareth Morris, et al.
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