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2023
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways
Biomedicines
2023
Efficacy of antiseizure medication in a mouse model of HCN1 developmental and epileptic encephalopathy
Epilepsia
2023
HCN1 epilepsy: From genetics and mechanisms to precision therapies
Journal of Neurochemistry
2022
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants
Frontiers in Molecular Neuroscience
2022
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy
Frontiers in Molecular Neuroscience
2022
Multidimensional Early Prediction Score for Drug-Resistant Epilepsy
Journal of Clinical Neurology
2022
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
Neurology Genetics
2022
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations
Clinical Dysmorphology
2022
Genetic testing for the epilepsies: A systematic review
Epilepsia
2022
Pentylenetetrazole-induced kindling rat model: miR-182 and miR-27b-3p mediated neuroprotective effect of thymoquinone in the hippocampus
Neurological Research
2021
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
Frontiers in Neuroscience
2021
Genetic factors and the risk of drug-resistant epilepsy in young children with epilepsy and neurodevelopment disability
Medicine
2020
Robust Linear Trend Test for Low-Coverage Next-Generation Sequence Data Controlling for Covariates
Mathematics
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