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 - Epilepsy classification using artificial intelligence: a web-based application.
Ali A Asadi-Pooya et al. Epilepsia Open 2023 - The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
Jennifer G Andrews et al. J Registry Manag 2023 50(1) 4-10 - Creating rare epilepsy cohorts using keyword search in electronic health records.
Kristen Barbour et al. Epilepsia 2023 - Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Gustavo Moura da Mata Machado Ferreira Pinto et al. Epileptic Disord 2023 - Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula et al. JAMA Neurol 2023 - Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 7 (7) e2324380 - Deep learning in neuroimaging of epilepsy.
Karla Batista García-Ramó et al. Clin Neurol Neurosurg 2023 232107879 - Machine learning using multimodal clinical, electroencephalographic, and magnetic resonance imaging data can predict incident depression in adults with epilepsy: A pilot study.
Guillermo Delgado-García et al. Epilepsia 2023 - An Epileptic Seizure Prediction Method Based on CBAM-3D CNN-LSTM Model.
Xiang Lu et al. IEEE J Transl Eng Health Med 2023 11417-423 - Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.
Angeliki Vakrinou et al. J Neurol Neurosurg Psychiatry 2023 - Epileptic EEG Classification via Graph Transformer Network.
Jian Lian et al. Int J Neural Syst 2023 2350042 - Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Linnaeus Bundalian et al. Am J Hum Genet 2023 6 - Joint use of population pharmacokinetics and machine learning for optimizing antiepileptic treatment in pediatric population.
Ivana Damnjanovic et al. Ther Adv Drug Saf 2023 1420420986231181337 - Integrating real-world data in cost-effectiveness analysis of universal HLA-B*15:02 screening in Malaysia.
Huey Yi Chong et al. Br J Clin Pharmacol 2023 - Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Dylan C Brock et al. Epilepsy Res 2023 193107167 - Improving nocturnal event monitoring in people with intellectual disability in community using an artificial intelligence camera.
Sarah Lennard et al. Epilepsy Behav Rep 2023 22100603 - PredictMed-epilepsy: A multi-agent based system for epilepsy detection and prediction in neuropediatrics.
Carlo M Bertoncelli et al. Comput Methods Programs Biomed 2023 236107548 - Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Ana Karen Sandoval-Talamantes et al. Genes (Basel) 2023 14(4) - Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey.
Hanna Skrobanski et al. Orphanet J Rare Dis 2023 18(1) 78 - Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Olivia J Henry et al. Molecular genetics & genomic medicine 2023 e2167 - KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
Raffaele Falsaperla et al. Neuropediatrics 2023 - Impact of Genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: a systematic review.
Shubham Misra et al. European journal of neurology 2023 - Identification of patients with epilepsy using automated electronic health records phenotyping.
Marta Fernandes et al. Epilepsia 2023 - Genetic variation supports a causal role for valproate in prevention of ischemic stroke.
Ernst Mayerhofer et al. medRxiv : the preprint server for health sciences 2023 - Prediction of epilepsy surgery outcome using foramen ovale EEG - A machine learning approach.
Gadi Miron et al. Epilepsy research 2023 191107111 - A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Antonella Riva et al. Epilepsia open 2023 - Clinical Utility of Exome Sequencing in a Pediatric Epilepsy Cohort.
Jordana L Graifman et al. Epilepsia 2023 - Experience of waiting for seizure freedom and perception of machine learning technologies to support treatment decision: A qualitative study in adults with recent onset epilepsy.
Sandra Reeder et al. Epilepsy research 2023 190107096 - EEG Datasets for Seizure Detection and Prediction - A Review.
Sheng Wong et al. Epilepsia open 2023 - BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Trine Tangeraas et al. Brain : a journal of neurology 2023
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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 15, 2024
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