Recessive

LAMA5 gene infant-onset epilepsy laminins spasms trios-based WES

Journal

Frontiers in molecular neuroscience
ISSN: 1662-5099
Titre abrégé: Front Mol Neurosci
Pays: Switzerland
ID NLM: 101477914

Informations de publication

Date de publication:
2022
Historique:
received: 30 11 2021
accepted: 19 04 2022
entrez: 6 6 2022
pubmed: 7 6 2022
medline: 7 6 2022
Statut: epublish

Résumé

The Trios-based whole-exome sequencing was performed in a cohort of 118 infants suffering from focal seizures with or without spasms. Protein modeling was used to assess the damaging effects of variations. The Six pairs of compound heterozygous missense variants in Recessive

Identifiants

DOI: 10.3389/fnmol.2022.825390 PMID: 35663266 PMC: PMC9162154
pubmed: 35663266
doi: 10.3389/fnmol.2022.825390
pmc: PMC9162154
doi:

Types de publication

Journal Article

Langues

eng

Pagination

825390

Informations de copyright

Copyright © 2022 Luo, Liu, Wang, Luo, Ye, Li, Zhai, Liu, Wang, Gao, Liu, Ye, Li, Gao, Guo, Li, Yi and Liao.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Sheng Luo (S)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Zhi-Gang Liu (ZG)

The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, China.

Juan Wang (J)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Jun-Xia Luo (JX)

Epilepsy Center, Qilu Children's Hospital of Shandong University, Jinan, China.

Xing-Guang Ye (XG)

The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, China.

Xin Li (X)

Department of Pediatrics, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Qiong-Xiang Zhai (QX)

Department of Neurology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Xiao-Rong Liu (XR)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Jie Wang (J)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Liang-Di Gao (LD)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Fu-Li Liu (FL)

Department of Neurology, The First People's Hospital of Foshan, Foshan, China.

Zi-Long Ye (ZL)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Huan Li (H)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Zai-Fen Gao (ZF)

Epilepsy Center, Qilu Children's Hospital of Shandong University, Jinan, China.

Qing-Hui Guo (QH)

Department of Pediatrics, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Bing-Mei Li (BM)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Yong-Hong Yi (YH)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Wei-Ping Liao (WP)

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Department of Neurology, Institute of Neuroscience, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Classifications MeSH