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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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150 hot topic(s) found with the query "Epilepsy"

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 (Posted: Jan 08, 2024 8AM)

From the abstract: "Based on medical records review, we estimated real-world costs and outcomes for 491 patients who underwent standard of care (SOC) diagnostic testing at BC Children’s Hospital. Results informed a state-transition Markov model examining cost-effectiveness of three competing diagnostic strategies: (1) SOC with last-tier access to ES; (2) streamlined ES access; (3) first-tier GS. We found earlier access to ES may yield more rapid genetic diagnosis of childhood developmental and seizure disorders and cost savings compared to current practice. "

Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications.
Debleena Guin et al. Pharmacogenomics J 2023 8 (Posted: Aug 28, 2023 1PM)

From the abstract: "A total of 270 articles were retrieved with PGx evidence associated with 19 ASMs including 178 variants across 93 genes, classifying 26 genetic variants as benign/ likely benign, fourteen as drug response markers and three as risk factors for drug response. Only seventeen of these were replicated, with accuracy (up to 95%) in predicting PGx outcomes specific to six ASMs. Eight out of seventeen variants have FDA-approved PGx drug labelling for clinical implementation."

Genome sequencing for the fast diagnosis of early-onset epilepsies.
Katrine M Johannesen et al. Lancet Neurol 2023 8 (9) 773-774 (Posted: Aug 23, 2023 10AM)

From the paper: "Technological advances have enabled genetic testing to become the first-line diagnostic investigation for individuals with early-onset epilepsies. A precise genetic diagnosis is essential because it has both personal and clinical utility and might enable timely administration of targeted treatments."

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 (Posted: Aug 23, 2023 10AM)

From the abstract: "Most neonatal and infantile-onset epilepsies have presumed genetic aetiologies, and early genetic diagnoses have the potential to inform clinical management and improve outcomes. We therefore aimed to determine the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in this population. Between Sept 1, 2021, and Aug 31, 2022, we enrolled 100 infants with new-onset epilepsy, of whom 41 (41%) were girls and 59 (59%) were boys. Median age of seizure onset was 128 days. For 43 of 100 infants, we identified genetic diagnoses, with a median time from seizure onset to rapid genome sequencing result of 37 days. Genetic diagnosis was associated with neonatal seizure onset versus infantile seizure onset."

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 7 (7) e2324380 (Posted: Jul 21, 2023 7AM)

What are the diagnostic yield and clinical utility of genetic sequencing for patients with unexplained pediatric epilepsy? This cohort study of 522 children with previously unexplained epilepsy used exome sequencing to identify and clinically confirm diagnostic results for 100 children, including 89 with single nucleotide variants and 11 with copy number variants. Individuals with earlier seizure onset, intellectual disability, and motor impairment were more likely to have diagnostic results, and at least 29 patients had changes in treatment, surveillance, or prognosis based on their genetic diagnoses.

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 (Posted: Jun 29, 2023 8AM)

Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants. For milder disease, rare genetic variants could contribute to the phenotype. To determine the importance of rare variants for different epilepsy types, we analyzed a whole-exome sequencing cohort of 9,170 epilepsy-affected individuals and 8,436 control individuals. Here, we separately analyzed three different groups of epilepsies: severe DEEs, genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE).

From precision diagnosis to precision treatment in epilepsy.
Katrine M Johannesen et al. Nature reviews. Neurology 2022 12 (Posted: Feb 01, 2023 1PM)

Technological advances over the past decade have made precision genetic diagnosis available to many patients. The findings of a new study demonstrate that genetic diagnosis in epilepsy can lead to changes in clinical management that manifest as positive outcomes for the patient. The results herald a new era in which precision diagnosis will lead to precision medicine.

The Use of Cell-free DNA in Clinical Practice: Work in Progress
M Clyne et al, CDC Blog Post, December 14, 2022 Brand (Posted: Dec 14, 2022 5PM)

Since its discovery in 1948, the utility of cfDNA has been studied extensively in screening, diagnosis, prognosis, therapy and monitoring disease progression. Although effort has focused on cancer, and mostly in NSCLC, other areas of research are ongoing, including autoimmune disease, metabolic disorders, Alzheimer’s disease, and other neurologic conditions, COVID-19, myocarditis and dilated cardiomyopathy, and refractory epilepsy. In addition to circulating cfDNA, potential clinical applications exist for other omics, including epigenetics and exosomal miRNAs, as well as use of cfDNA in other body fluids (e.g. urine).

Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen Alina I et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12 (Posted: Dec 09, 2022 7AM)

Sub-Saharan Africa bears the highest burden of epilepsy worldwide. A presumed proportion is genetic, but this etiology is buried under the burden of infections and perinatal insults in a setting of limited awareness and few options for testing. Children with developmental and epileptic encephalopathies (DEEs) are most severely affected by this diagnostic gap in Africa, because the rate of actionable findings is highest in DEE-associated genes. Of the 41 (of 234) children with likely/pathogenic variants, 26 had variants supporting precision therapy.

Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
R Stevelink et al, EBiomedicine, November 11, 2022 (Posted: Nov 13, 2022 6AM)

We found nine independent predictors of drug resistance: three seizure types, psychiatric comorbidities, catamenial epilepsy, epileptiform focality, ethnicity, history of CAE, family history of epilepsy, status epilepticus, and febrile seizures. Internal-external cross-validation of our multivariable model showed an area under the receiver operating characteristic curve of 0·70 (95%CI 0·68–0·72). Recurrence of seizures after ASM withdrawal (n = 368) was predicted by an earlier age at the start of withdrawal, shorter seizure-free interval and more currently used ASMs.

5 Things You Should Know About Epilepsy
CDC, November 2022 Brand (Posted: Nov 03, 2022 7PM)

Here’s what you need to know: Epilepsy is common. Seizures may look different than you expect. Seizure first aid is easy to give. People with epilepsy can lead full lives. Epilepsy can be caused by different conditions that affect a person’s brain. Many times, doctors don’t know the cause. Epilepsy can be caused by different conditions that affect a person’s brain. Some known causes include: Stroke. Brain tumor. Brain infection, Traumatic brain injury or head injury. Loss of oxygen to the brain (for example, during birth) and some genetic disorders.

The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population
V Smuk et al, EJHG, October 17, 2022 (Posted: Oct 17, 2022 6AM)

We selected 127 established monogenic epilepsy genes and explored rare loss-of-function (LoF) variant associations with 3700 phenotypes across 281,850 individuals from the UK Biobank with whole-exome sequencing data. For 5.5% of epilepsy genes, we found significant associations of LoF variants with non-epilepsy phenotypes, mostly related to mental health. These findings suggest that LoF variants in epilepsy genes are associated with neurological or psychiatric phenotypes in the general population

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
P Boonsimma et al, EJHG< October 5, 2022 (Posted: Oct 05, 2022 11AM)

From June 2016 to December 2020, we enrolled patients with infantile-onset (age?=?12 months) pharmacoresistant epilepsy. 103 unrelated patients underwent ES. Clinical characteristics and changes in management due to the molecular diagnosis were studied. 42% (43/103) had epilepsy onset within the first month of life. After ES as first-tier genetic testing, 62% (64/103) of the cases were solved.

Development and Validation of a Deep Learning Model for Predicting Treatment Response in Patients With Newly Diagnosed Epilepsy
H Hakim et al, JAMA Neurology, August 29, 2022 (Posted: Aug 29, 2022 1PM)

Can a machine learning model predict treatment success of the initial antiseizure medication? With the use of routinely collected clinical information, this cohort study developed a deep learning model on a pooled cohort of 1798 adults with newly diagnosed epilepsy seen in 5 centers in 4 countries. The model showed potential in predicting treatment success on the first prescribed antiseizure medication.

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca regulation.
Halvorsen Matthew et al. Proceedings of the National Academy of Sciences of the United States of America 2021 12 (52) (Posted: Dec 28, 2021 7AM)

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other disorders. Among decedents, nonsynonymous DNMs were enriched in genes associated with cardiac and seizure disorders relative to controls (odds ratio = 9.76).

New publications in health economics and genomics 8th June 2021
J Buchanan, Health Economics and Genomics, June 2021 (Posted: Jun 09, 2021 7AM)

Five publications from the past week: Genomic sequencing for the diagnosis of childhood mitochondrial disorders; A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing; Rapid precision care incorporating rWGS in 5 California children’s hospitals; Understanding decisions to participate in genomic medicine in children’s cancer care; Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders.

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data
DL Smith et al, EJHG, May 24, 2021 (Posted: May 25, 2021 6AM)

Delineation of how the phenotypic homogeneity of genetic epilepsies varies with age could improve the phenotypic classification of these disorders, the accuracy of prognostic counseling, and by providing historical control data, the design and interpretation of precision clinical trials in rare diseases.

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation
S Ganesan et al, Genetics in Medicine, August 10, 2020 (Posted: Aug 10, 2020 9AM)

Some aspects of the longitudinal disease histories can be reconstructed through EMR data and reveal significant gene–phenotype associations, even within closely related conditions. Gene-specific EMR footprints may enable outcome studies and clinical decision support.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative
S Rockowitz et al, NPJ Genomic Medicine, July 6, 2020 (Posted: Jul 09, 2020 9AM)

We have developed a broadly sharable database of 2441 exomes from 15 pediatric rare disease cohorts, with major contributions from early onset epilepsy and early onset inflammatory bowel disease. All sequencing data is integrated and combined with phenotypic and research data in a genomics learning system (GLS).

Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers.
Helbig Ingo et al. Neuropharmacology 2020 Jan 172107970 (Posted: May 20, 2020 7AM)

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy
JA Sorelle et al, JAMA Network Open, April 2020 (Posted: May 01, 2020 8AM)

In this cross-sectional study of 22?676 genetic variants associated with epilepsy that were reported to the ClinVar public database, 3.2% of variants interpreted by more than one laboratory had clinically substantial discordance in interpretations.

Recent advances in epilepsy genomics and genetic testing.
Hebbar Malavika et al. F1000Research 2020 9 (Posted: Mar 25, 2020 9AM)

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.
Scala Marcello et al. Expert review of neurotherapeutics 2020 Jan (Posted: Jan 22, 2020 9AM)

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus Anne et al. Epilepsia 2020 Jan (Posted: Jan 22, 2020 9AM)

Customized multigene panels in epilepsy: the best things come in small packages.
Pellacani Simona et al. Neurogenetics 2019 Dec (Posted: Dec 18, 2019 8AM)

A panel containing 64 genes, which includes the 45 genes harboring a significant number of pathogenic variants identified in previous literature, the 32 clinically actionable genes, and the 21 ILAE (International League Against Epilepsy) recommended genes, may represent an "ideal" core set likely able to provide the highest diagnostic efficiency

Sudden Unexpected Death in Epilepsy (SUDEP)
CDC, 2019 Brand (Posted: Dec 02, 2019 9AM)

Genetic Predisposition to Anticonvulsant Hypersensitivity
M Pirmohamed, CPT, September 2019 (Posted: Sep 30, 2019 8AM)

Anticonvulsant hypersensitivity is an important clinical problem where there is increasing evidence of genetic predisposition. This has been most evident with carbamazepine where two human leukocyte antigen alleles have been identified. However, implementation remains suboptimal even when test costs are reimbursed.

Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the antiepileptic drug levetiracetam
DV Vavoulis et al, MedRXIV, September 27, 2019 (Posted: Sep 30, 2019 8AM)

Early prediction of epileptic seizures using a long-term recurrent convolutional network.
Wei Xiaoyan et al. Journal of neuroscience methods 2019 Aug 108395 (Posted: Aug 21, 2019 9AM)

Epilepsy in Children
CDC, August 2019 Brand (Posted: Aug 15, 2019 9AM)

Tackling Epilepsy With High-definition Precision Medicine: A Review.
Kearney Hugh et al. JAMA neurology 2019 Aug (Posted: Aug 07, 2019 7AM)

High-definition medicine will require the development of analytical techniques, including artificial intelligence, that use and combine behavioral, environmental, molecular genomic, chronotype, and microbiomic data to offer the best individualized therapeutic options for disease management in each person with epilepsy.

DNA sequencing study suggests common genetic basis for epilepsy
by Abbey Bigler, Broad Institute, July 23, 2019 (Posted: Jul 25, 2019 10AM)

Epilepsy is one of the most widespread neurological disorders, but relatively little is known about the genes involved in the more common types. By examining all the genes of over 17,000 people, an international research group has found that more and less severe forms of epilepsy may share similar genetic features.

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Epi25 collaborative, AJHG, July 18, 2019 (Posted: Jul 19, 2019 8AM)

The study performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. Compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy.

What is the role of next generation sequencing in status epilepticus?
Guerrini Renzo et al. Epilepsy & behavior : E&B 2019 Jul (Posted: Jul 17, 2019 8AM)

Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
Borlot Felippe et al. Epilepsia 2019 Jul (Posted: Jul 10, 2019 8AM)

To goal of the study was to determine the diagnostic yield of a commercial epilepsy gene panel in adults with chronic epilepsy and accompanying intellectual disability, given that genetic evaluation is often overlooked in this group of patients. The study demonstrated that a commercial epilepsy gene panel can be an important resource in clinical practice, identifying the etiology in 22% of adults with epilepsy and intellectual disability.

Blood samples reveal valuable data — and life-changing surprises for donors
PD McCluskey, Boston Globe, July 5, 2019 (Posted: Jul 09, 2019 10AM)

More than 103,000 patients have agreed to provide blood to the Partners HealthCare Biobank, and their samples are providing valuable data for some 200 studies about Alzheimer?s, depression, diabetes, epilepsy, heart disease, and other conditions. But the research initiative is also having another impact, one that is more personal and immediate: It?s revealing genetic red flags that patients otherwise might never have seen.

Predicting seizures in pregnant women with epilepsy: Development and external validation of a prognostic model.
Allotey John et al. PLoS medicine 2019 May (5) e1002802 (Posted: May 17, 2019 7AM)

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
HO Heyne et al, Genetics in Medicine, May 6, 2019 (Posted: May 06, 2019 1PM)

Evaluation of Seizure Etiology From Routine Testing to Genetic Evaluation.
Schuele Stephan U et al. Continuum (Minneapolis, Minn.) 2019 Apr 25(2) 322-342 (Posted: Apr 03, 2019 9AM)

From next generation sequencing to targeted treatment of non-acquired epilepsies.
Møller Rikke S et al. Expert review of molecular diagnostics 2019 Jan (Posted: Jan 23, 2019 1PM)

Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing.
Jaitovich Groisman Iris et al. Epilepsy & behavior : E&B 2018 Dec 90178-190 (Posted: Jan 02, 2019 4PM)

Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes
HT Nguyen et al, VIOXRIV preprints, November 24, 2018 (Posted: Nov 26, 2018 11AM)

Reanalyzing gene tests prompts new diagnoses in kids-Epilepsy study calls for 2-year checks to keep pace with scientific advances
UT SouthWestern, November 5, 2018 (Posted: Nov 08, 2018 9AM)

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle Jeffrey A et al. JAMA pediatrics 2018 Nov e182302 (Posted: Nov 07, 2018 11AM)

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig Ingo et al. Human mutation 2018 Nov (11) 1476-1484 (Posted: Oct 13, 2018 3PM)

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
Calhoun Jeffrey D et al. Journal of neurogenetics 2018 Sep 1-18 (Posted: Sep 26, 2018 10AM)

Association Between Midlife Risk Factors and Late-Onset Epilepsy: Results From the Atherosclerosis Risk in Communities Study.
Johnson Emily L et al. JAMA neurology 2018 Jul (Posted: Aug 02, 2018 8AM)

Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai Meng-Han et al. Frontiers in neurology 2018 9515 (Posted: Jul 25, 2018 8AM)

Epilepsy Genetics: current knowledge, applications and future directions.
Myers Kenneth A et al. Clinical genetics 2018 Jul (Posted: Jul 18, 2018 9AM)

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.
Peng Jing et al. CNS neuroscience & therapeutics 2018 Jun (Posted: Jun 27, 2018 9AM)

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.
Yuskaitis Christopher J et al. JAMA pediatrics 2018 Jun (Posted: Jun 06, 2018 9AM)

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell Katherine B et al. Epilepsia 2018 May (Posted: May 17, 2018 1PM)

Genetic generalized epilepsies.
Mullen Saul A et al. Epilepsia 2018 May (Posted: May 17, 2018 1PM)

Epilepsy and Seizures in Older Adults
Brand (Posted: May 15, 2018 10AM)

Incorporating epilepsy genetics into clinical practice: a 360°evaluation
S Oates et al, Nat Comm, May 2018 (Posted: May 15, 2018 8AM)

Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.
Lee Eun Hye et al. Korean journal of pediatrics 2018 Apr 61(4) 101-107 (Posted: May 02, 2018 9AM)

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey Julia N et al. The New England journal of medicine 2018 Mar (11) 1018-1028 (Posted: Mar 15, 2018 8AM)

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer Julia et al. Pharmacological reviews 2018 Jan (1) 142-173 (Posted: Feb 20, 2018 10AM)

Neonatal epilepsy genetics.
Axeen Erika J T et al. Seminars in fetal & neonatal medicine 2018 Jan (Posted: Feb 20, 2018 9AM)

Epilepsy: Improving Quality of Life
Brand (Posted: Feb 20, 2018 9AM)

Loving Someone With Epilepsy
E Sharmin, Public Health Matters Blog, Nov 1, 2017 Brand (Posted: Nov 01, 2017 3PM)

Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio Miryam et al. Current neurology and neuroscience reports 2017 Oct (12) 97 (Posted: Nov 01, 2017 3PM)

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler Kameryn M et al. Pediatric neurology 2017 Sep (Posted: Oct 25, 2017 8AM)

Role of pharmacogenomics in antiepileptic drug therapy: current status and future perspectives.
Gambardella Antonio et al. Current pharmaceutical design 2017 Sep (Posted: Sep 13, 2017 9AM)

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
MB Stosser et al, Genetics in Medicine, August 24, 2017 (Posted: Aug 24, 2017 2PM)

Treatable Genetic Metabolic Epilepsies.
Assi Lama et al. Current treatment options in neurology 2017 Sep (9) 30 (Posted: Aug 21, 2017 8AM)

Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall Richard D et al. Frontiers in neurology 2017 348 (Posted: Aug 21, 2017 8AM)

5 Things You Should Know About Epilepsy
Brand (Posted: Aug 21, 2017 8AM)

Study: Most newborns with epilepsy benefit from genetic testing
Science Mag, August 3, 2017 (Posted: Aug 07, 2017 9AM)

The role of genetic testing in epilepsy diagnosis and management.
Weber Yvonne G et al. Expert review of molecular diagnostics 2017 Aug (8) 739-750 (Posted: Jul 31, 2017 1PM)

Early-Life Epilepsies and the Emerging Role of Genetic Testing
AT Berg et al, JAMA Pediatrics, JAMA Pediatrics, July 31, 2017 (Posted: Jul 31, 2017 1PM)

Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.
Kutscher Eric J et al. Pediatric neurology 2017 Apr (Posted: Jun 07, 2017 9AM)

Study finds genetic basis for drug response in childhood absence epilepsy
NIH Press Release, April 11, 2017 Brand (Posted: Apr 12, 2017 7AM)

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?
Koeleman Bobby P C et al. Neuroscience letters 2017 Mar (Posted: Apr 11, 2017 3PM)

Precision medicine in genetic epilepsies: break of dawn?
Reif Philipp Sebastian et al. Expert review of neurotherapeutics 2016 Nov 1-12 (Posted: Feb 13, 2017 11AM)

Epilepsy-associated genes.
Wang Jie et al. Seizure 2017 Jan 11-20 (Posted: Feb 13, 2017 11AM)

Pharmacogenomics in epilepsy.
Balestrini Simona et al. Neuroscience letters 2017 Jan (Posted: Feb 13, 2017 11AM)

Spotlight on Seizures
Brand (Posted: Oct 19, 2016 3PM)

Epilepsy: Frequently Asked Questions
Brand (Posted: Oct 19, 2016 3PM)

Epilepsy and Seizures in Older Adults
Brand (Posted: Mar 26, 2016 3PM)

Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy patients: a functional and interethnic perspective
P Talwar et al, Pharmacogenomics Journal, March 8, 2016 (Posted: Mar 09, 2016 9AM)

Genetics of reflex seizures and epilepsies in humans and animals.
Italiano Domenico et al. Epilepsy research 2016 Mar 47-54 (Posted: Mar 09, 2016 7AM)

Seizure First Aid
Brand (Posted: Jan 29, 2016 11AM)

Review of Commercially Available Epilepsy Genetic Panels.
Chambers Chelsea et al. Journal of genetic counseling 2015 Nov (Posted: Jan 21, 2016 5PM)

Lessons learned from gene identification studies in Mendelian epilepsy disorders.
Hardies Katia et al. European journal of human genetics : EJHG 2015 Nov (Posted: Jan 21, 2016 5PM)

A genomic view on epilepsy and autism candidate genes.
Jabbari Kamel et al. Genomics 2016 Jan (Posted: Jan 21, 2016 5PM)

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
KL Helbig et al, Genetics in Medicine, January 21, 2016 (Posted: Jan 21, 2016 5PM)

Epilepsia
Brand (Posted: Nov 12, 2015 2PM)

November is National Epilepsy Awareness Month
Brand (Posted: Nov 09, 2015 9PM)

Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.
Dhindsa Ryan S et al. Current neurology and neuroscience reports 2015 Oct (10) 70 (Posted: Nov 05, 2015 2PM)

Obtaining genetic testing in pediatric epilepsy.
Ream Margie A et al. Epilepsia 2015 Oct (10) 1505-14 (Posted: Nov 05, 2015 2PM)

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.
Torres Fátima et al. Journal of medical genetics 2015 Oct (Posted: Nov 05, 2015 2PM)

Single-Gene Determinants of Epilepsy Comorbidity.
Noebels Jeffrey L et al. Cold Spring Harbor perspectives in medicine 2015 (11) (Posted: Nov 05, 2015 2PM)

Seizures in Children and Adolescents Aged 6–17 Years — United States, 2010–2014
W Cui et al, MMWR, November 6, 2015 Brand (Posted: Nov 05, 2015 2PM)

Genetic testing for pediatric epilepsy can be complicated, but beneficial
Medical Xpress, September 9, 2015 (Posted: Sep 16, 2015 11AM)

The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
Hrabik Sarah A et al. J. Child Neurol. 2015 Apr 10. (Posted: Sep 02, 2015 1PM)

Advancing epilepsy genetics in the genomic era [PDF 513.63 KB]
CT Myers et al. Genome Medicine, August 2015 (Posted: Aug 25, 2015 4PM)

Epilepsy often comes with other health issues
Brand (Posted: Aug 25, 2015 4PM)

Epilepsy: Frequently asked questions
Brand (Posted: Aug 25, 2015 4PM)

Epilepsy
Brand (Posted: Aug 25, 2015 4PM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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