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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Neurological Disorders
Last data update: May 07, 2024
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Epilepsy[original query]>>Original Studies[Product Type]
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
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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
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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
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Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome.
Tony Feng et al. Brain Commun 2024 6(1) fcae004
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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
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The role of copy number variants in the genetic architecture of common familial epilepsies.
et al. Epilepsia 2023
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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
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Clinical and Demographic Characteristics of Families Attending the Epilepsy, Neuromuscular, and Child Wellbeing Clinics.
Ahmed K Bamaga et al. Cureus 2023 15(8) e43651
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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte et al. Res Sq 2023
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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 22(9) 812-825
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Epilepsy classification using artificial intelligence: a web-based application.
Ali A Asadi-Pooya et al. Epilepsia Open 2023
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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
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Creating rare epilepsy cohorts using keyword search in electronic health records.
Kristen Barbour et al. Epilepsia 2023
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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
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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula et al. JAMA Neurol 2023
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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 6(7) e2324380
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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
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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
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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
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Epileptic EEG Classification via Graph Transformer Network.
Jian Lian et al. Int J Neural Syst 2023 2350042
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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
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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
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Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Dylan C Brock et al. Epilepsy Res 2023 193107167
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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
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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
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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)
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. medRxiv 2023
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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
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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
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 07, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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