Epilepsy
What's New
Last Posted: Apr 09, 2024
- Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis.
Alan J Robertson et al. Sci Rep 2024 14(1) 7717 - A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals.
Mariela V Jennings et al. EBioMedicine 2024 105086 - Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Ali AlMail et al. NPJ Genom Med 2024 9(1) 27 - Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Maria T Papadopoulou et al. Epilepsia Open 2024 - A Communication and Decision-Making Framework for Pediatric Precision Medicine.
Brittany L Greene et al. Pediatrics 2024 - Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
Alexis Karlin et al. Curr Probl Pediatr Adolesc Health Care 2024 101579 - The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. Genome Med 2024 16(1) 13 - Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome.
Tony Feng et al. Brain Commun 2024 6(1) fcae004 - Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada
DA Regier et al, Genetics in Medicine, January 8, 2024 - Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Maximilian G W Witzel et al. Front Neurol 2023 141276238 - The role of copy number variants in the genetic architecture of common familial epilepsies.
et al. Epilepsia 2023 - Machine Learning and Artificial Intelligence Applications to Epilepsy: a Review for the Practicing Epileptologist.
Wesley T Kerr et al. Curr Neurol Neurosci Rep 2023 - EEG-Based Epilepsy Prediction: Evaluation Metrics, Data Deficiency and Limitation of Current Methods.
Bowen Xiong et al. Stud Health Technol Inform 2023 3083-10 - Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing.
Cynthia Addona et al. Epilepsy Res 2023 196107221 - Clinical and Demographic Characteristics of Families Attending the Epilepsy, Neuromuscular, and Child Wellbeing Clinics.
Ahmed K Bamaga et al. Cureus 2023 15(8) e43651 - The Application of Deep Learning to Electroencephalograms, Magnetic Resonance Imaging, and Implants for the Detection of Epileptic Seizures: A Narrative Review.
Arihant Singh et al. Cureus 2023 15(7) e42460 - Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications.
Debleena Guin et al. Pharmacogenomics J 2023 8 - CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte et al. Res Sq 2023 - Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Alissa M D'Gama et al. Lancet Neurol 2023 8 (9) 812-825 - Genome sequencing for the fast diagnosis of early-onset epilepsies.
Katrine M Johannesen et al. Lancet Neurol 2023 8 (9) 773-774
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About ND PHGKB
Neurological Disorders (ND) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to neurological disorders....more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
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