Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families-Reference-Cited by-同舟云学术

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

Published:2021-01-19 Issue:1 Volume:6 Page:149-159
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Jeffrey Jennifer S.¹^ORCID,Leathem Janet¹,King Chontelle²,Mefford Heather C.³,Ross Kirsty¹,Sadleir Lynette G.²^ORCID

Affiliation:

1. School of Psychology Massey University Wellington New Zealand

2. Department of Paediatrics and Child Health University of Otago Wellington New Zealand

3. Department of Pediatrics Division of Genetic Medicine University of Washington Seattle WA USA

Funder

Health Research Council of New Zealand

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12458

Reference30 articles.

1. Comorbidities of epilepsy: current concepts and future perspectives

2. Long-Term Mortality in Childhood-Onset Epilepsy

3. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

4. Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling

5. Epilepsy and developmental disorders: Next generation sequencing in the clinic

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Understanding Developmental and Epileptic Encephalopathies;EMJ Neurology;2024-08-27

2. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement;Nature Communications;2024-08-06

3. Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder;European Journal of Human Genetics;2024-04-11

4. Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research;Epilepsy Currents;2024-03-25

5. Role of Next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder;2023-09-22

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