September 05, 2024 review Open access Developmental and epileptic encephalopathies Nature Reviews Disease Primers DOI: 10.1038/s41572-024-00546-6 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 129 References 9 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study 2023 The Lancet Neurology article Medicine Epilepsy research and treatment Open access 81 citations Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 77 citations ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 2021 Brain article Medicine Epilepsy research and treatment Open access 71 citations Epigenetic genes and epilepsy — emerging mechanisms and clinical applications 2022 Nature Reviews Neurology review Medicine Epilepsy research and treatment Open access 68 citations Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies 2021 Journal of Neurology Neurosurgery & Psychiatry article Medicine Epilepsy research and treatment Open access 49 citations Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 43 citations The role of common genetic variation in presumed monogenic epilepsies 2022 EBioMedicine article Medicine Epilepsy research and treatment Open access 42 citations Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy 2022 Brain article Medicine Epilepsy research and treatment Open access 35 citations Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 6 citations 9 results