Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause-Reference-Cited by-同舟云学术

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Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause

Published:2016-04-26 Issue:5 Volume:90 Page:428-436
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ma Y.¹,Chen C.²,Wang Y.¹,Wu L.¹,He F.¹,Chen C.¹,Zhang C.¹,Deng X.¹,Yang L.¹,Chen Y.¹,Wu L.³,Yin F.¹³,Peng J.¹

Affiliation:

1. Department of Pediatrics; Xiangya Hospital, Central South University; Changsha China

2. State Key Laboratory of Medical Genetics; Central South University; Changsha China

3. Hunan Intellectual and Developmental Disabilities Research Center; Changsha China

Funder

National Natural Science Foundation of China

Hunan Province Key Technology Support Program

State Key Program of National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12768/fullpdf

Reference56 articles.

1. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

2. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy;Kodera;Epilepsia,2013

3. Infantile spasms: little seizures, BIG consequences;Shields;Epilepsy Curr,2006

4. Treatment of pediatric epilepsy: expert opinion;Wheless;J Child Neurol,2005

5. Duplication hotspots, rare genomic disorders, and common disease;Mefford;Curr Opin Genet Dev,2009

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1. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum;Physiological Reviews;2023-01-01

2. Genetic analysis of neurodevelopmental disorders in children;Frontiers in Child and Adolescent Psychiatry;2022-12-07

3. An atlas of CNV maps in cattle, goat and sheep;Science China Life Sciences;2021-01-21

4. EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation;Epilepsy & Behavior;2020-04

5. A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies;Epilepsy Currents;2020-03

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