ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay-Reference-Cited by-同舟云学术

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ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay

Published:2023-05-10 Issue:9 Volume:68 Page:589-597
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Zhao Siyu,Zhang Xiaoling,Yang Le,Wang Yan,Jia ShanShan,Li Xia,Wang Zhijing,Yang Fan,Liang Mengmeng,Wang Xiuxia,Wang Dong

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-023-01145-1.pdf

Reference22 articles.

1. Steering Committee on Quality Improvement and Management, Subcommittee on Febrile Seizures American Academy of Pediatrics. Febrile seizures clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics. 2008;121:1281–6.

2. Camfield P, Camfield C. Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+). Epileptic Disord. 2015;17:124–33.

3. Annegers JF, Hauser WA, Shirts SB, Kurland LT. Factors prognostic of unprovoked seizures after febrile convulsions. N. Engl J Med. 1987;316:493–8.

4. Nelson KB, Ellenberg JH. Predictors of epilepsy in children who have experienced febrile seizures. N. Engl J Med. 1976;295:1029–33.

5. Kang JQ, Macdonald RL. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. JAMA Neurol. 2016;73:1009–16.

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1. V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities;Cells;2024-08-28

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