Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance-Reference-Cited by-同舟云学术

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Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance

Published:2020-10-15 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Liu Xiao-Rong,Bian Wen-Jun,Wang Jie,Ye Ting-Ting,Li Bing-Mei,Liu De-Tian,Tang Bin,Deng Wei-Wen,Shi Yi-Wu,Su Tao,Yi Yong-Hong,Liao Wei-Ping

Funder

National Natural Science Foundation of China

Science and Technology Planning Project of Guangdong Province

Natural Science Foundation of Guangdong Province

Guangzhou Science, Technology and Innovation Commission

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference27 articles.

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2. Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.;Bernth-Jensen;J. Allergy Clin. Immunol.,2016

3. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy.;Epilepsia,1989

4. Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.;de la Morena-Barrio;Pediatr. Res.,2018

5. Prevalence and architecture of de novo mutations in developmental disorders.;Nature,2017

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