Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort-Reference-Cited by-同舟云学术

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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Published:2020-01-19 Issue:2 Volume:61 Page:249-258
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Rochtus Anne¹²^ORCID,Olson Heather E.¹³,Smith Lacey¹^ORCID,Keith Louisa G.¹,El Achkar Christelle¹³,Taylor Alan⁴,Mahida Sonal¹,Park Meredith¹,Kelly McKenna¹,Shain Catherine¹,Rockowitz Shira⁵,Rosen Sheidley Beth¹,Poduri Annapurna¹³^ORCID

Affiliation:

1. Epilepsy Genetics Program Department of Neurology Boston Children's Hospital Boston Massachusetts

2. Department of Pediatrics University of Leuven Leuven Belgium

3. Department of Neurology Harvard Medical School Boston Massachusetts

4. Department of Genomics Al Jalila Children's Specialty Hospital Dubai

5. Information Services Department Boston Children’s Hospital Boston Massachusetts

Funder

Belgian American Educational Foundation

KU Leuven

Bureau of Educational and Cultural Affairs

Boston Children's Hospital

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16427

Reference42 articles.

1. RecessiveITPAmutations cause an early infantile encephalopathy

2. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

3. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

4. Recent advances in the molecular genetics of epilepsy

5. The genetic landscape of the epileptic encephalopathies of infancy and childhood

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1. Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom;Journal of Child Neurology;2024-09-10

2. A retrospective review of reclassification of Variants of Uncertain Significance in a pediatric epilepsy cohort undergoing genetic panel testing.;Pediatric Neurology;2024-09

3. Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm;Current Problems in Pediatric and Adolescent Health Care;2024-08

4. Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies;Molecular Diagnosis & Therapy;2024-07-14

5. Broadening the scope of multigene panel analysis for adult epilepsy patients;Epilepsia Open;2024-07

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