Peng J - Search Results

1

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.

Chen H, Chen Y, Wu H, Qiu X, Yu X, Wang R, Zhong J, Peng J. Chen H, et al. Among authors: peng j. Seizure. 2023 Oct;111:138-146. doi: 10.1016/j.seizure.2023.08.009. Epub 2023 Aug 18. Seizure. 2023. PMID: 37633153 Free article. Review.

2

Efficacy of different treatment modalities for acute and chronic phases of the febrile infection-related epilepsy syndrome: A systematic review.

Kessi M, Liu F, Zhan Y, Tang Y, Wu L, Yang L, Zhang CL, Yin F, Peng J. Kessi M, et al. Among authors: peng j. Seizure. 2020 Jul;79:61-68. doi: 10.1016/j.seizure.2020.04.015. Epub 2020 May 14. Seizure. 2020. PMID: 32417686 Free article.

3

Efficacy of the ketogenic diet on ACTH- or corticosteroid-resistant infantile spasm: a multicentre prospective control study.

Zhang J, Chen G, Wang J, Jiang Y, Yang Z, Xu K, Peng J, Zhou S, Jiang L, Li B, Zhang D, Liu Z, Huang L, Chen C, Fang F, Chen Y, Wu Y, Zhong J, Zha J, Yin F, Yu L, Wu Y. Zhang J, et al. Among authors: peng j. Epileptic Disord. 2021 Apr 1;23(2):337-345. doi: 10.1684/epd.2021.1256. Epileptic Disord. 2021. PMID: 33772508

4

Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.

He H, Zhang H, Chen H, He F, Yin F, Stauber T, Zou X, Peng J. He H, et al. Among authors: peng j. CNS Neurosci Ther. 2023 Dec;29(12):4059-4069. doi: 10.1111/cns.14329. Epub 2023 Jun 28. CNS Neurosci Ther. 2023. PMID: 37381736 Free PMC article.

5

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.

Yao X, Peng J, Luo R, Wang X, Lu X, Wu L, Jin R, Zhong J, Liang J, Hong S, Yang L, Zhang X, Mao S, Hu J, Tao Z, Sun D, Wang H, Zhang L, Xia Y, Chen K, Wang Y. Yao X, et al. Among authors: peng j. J Neurol. 2024 Aug;271(8):5378-5391. doi: 10.1007/s00415-024-12442-w. Epub 2024 Jul 2. J Neurol. 2024. PMID: 38954034 Free PMC article.

6

De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.

Duan H, Peng J, Kessi M, Yin F. Duan H, et al. Among authors: peng j. Child Neurol Open. 2018 Apr 11;5:2329048X18767738. doi: 10.1177/2329048X18767738. eCollection 2018. Child Neurol Open. 2018. PMID: 29687029 Free PMC article.

7

De novo variants of DEAF1 cause intellectual disability in six Chinese patients.

Chen S, Deng X, Xiong J, He F, Yang L, Chen B, Chen C, Zhang C, Yang L, Peng J, Yin F. Chen S, et al. Among authors: peng j. Clin Chim Acta. 2021 Jul;518:17-21. doi: 10.1016/j.cca.2021.02.026. Epub 2021 Mar 9. Clin Chim Acta. 2021. PMID: 33705764

8

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.

Chen S, Deng X, Xiong J, Chen B, He F, Yang L, Yang L, Peng J, Yin F. Chen S, et al. Among authors: peng j. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Feb 28;47(2):265-270. doi: 10.11817/j.issn.1672-7347.2022.210070. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35545418 Free PMC article. Chinese, English.

9

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].

Wang XL, Tian YN, Chen C, Peng J. Wang XL, et al. Among authors: peng j. Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15;25(5):489-496. doi: 10.7499/j.issn.1008-8830.2301054. Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 37272175 Free PMC article. Review. Chinese.

10

The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.

Kessi M, Chen B, Pang N, Yang L, Peng J, He F, Yin F. Kessi M, et al. Among authors: peng j. Front Mol Neurosci. 2023 Jul 24;16:1222321. doi: 10.3389/fnmol.2023.1222321. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37555011 Free PMC article.

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