He N - Search Results

1

NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.

Shen NX, Qu XC, Yu J, Fan CX, Min FL, Li LY, Zhang MR, Li BM, Wang J, He N, Liao WP, Shi YW, Li WB. Shen NX, et al. Among authors: he n. Mol Neurobiol. 2024 Mar 23. doi: 10.1007/s12035-024-04123-6. Online ahead of print. Mol Neurobiol. 2024. PMID: 38520610

2

A Point Mutation in SCN1A 5' Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug.

Gao QW, Hua LD, Wang J, Fan CX, Deng WY, Li B, Bian WJ, Shao CX, He N, Zhou P, Liao WP, Shi YW. Gao QW, et al. Among authors: he n. Mol Neurobiol. 2017 May;54(4):2428-2434. doi: 10.1007/s12035-016-9800-y. Epub 2016 Mar 11. Mol Neurobiol. 2017. PMID: 26969601

3

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Wang JY, Zhou P, Wang J, Tang B, Su T, Liu XR, Li BM, Meng H, Shi YW, Yi YH, He N, Liao WP. Wang JY, et al. Among authors: he n. Neurogenetics. 2018 Jan;19(1):9-16. doi: 10.1007/s10048-017-0528-2. Epub 2017 Nov 13. Neurogenetics. 2018. PMID: 29130122

4

Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome.

He N, Li BM, Li ZX, Wang J, Liu XR, Meng H, Tang B, Bian WJ, Shi YW, Liao WP. He N, et al. J Neurodev Disord. 2018 Mar 20;10(1):10. doi: 10.1186/s11689-018-9229-x. J Neurodev Disord. 2018. PMID: 29558884 Free PMC article.

5

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

He N, Lin ZJ, Wang J, Wei F, Meng H, Liu XR, Chen Q, Su T, Shi YW, Yi YH, Liao WP. He N, et al. Genet Med. 2019 Jan;21(1):17-27. doi: 10.1038/s41436-018-0011-y. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895856 Free PMC article. Review.

6

UNC13B variants associated with partial epilepsy with favourable outcome.

Wang J, Qiao JD, Liu XR, Liu DT, Chen YH, Wu Y, Sun Y, Yu J, Ren RN, Mei Z, Liu YX, Shi YW, Jiang M, Lin SM, He N, Li B, Bian WJ, Li BM, Yi YH, Su T, Liu HK, Gu WY, Liao WP. Wang J, et al. Among authors: he n. Brain. 2021 Nov 29;144(10):3050-3060. doi: 10.1093/brain/awab164. Brain. 2021. PMID: 33876820 Free PMC article.

7

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

Liu XR, Ye TT, Zhang WJ, Guo X, Wang J, Huang SP, Xie LS, Song XW, Deng WW, Li BM, He N, Wu QY, Zhuang MZ, Xu M, Shi YW, Su T, Yi YH, Liao WP; China Epilepsy Gene 1.0 Project. Liu XR, et al. Among authors: he n. CNS Neurosci Ther. 2021 Oct;27(10):1146-1156. doi: 10.1111/cns.13692. Epub 2021 Jun 9. CNS Neurosci Ther. 2021. PMID: 34109749 Free PMC article.

8

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Li J, Lin SM, Qiao JD, Liu XR, Wang J, Jiang M, Zhang J, Zhong M, Chen XQ, Zhu J, He N, Su T, Shi YW, Yi YH, Liao WP; China Epilepsy Gene 1.0 Project. Li J, et al. Among authors: he n. CNS Neurosci Ther. 2022 Mar;28(3):382-389. doi: 10.1111/cns.13781. Epub 2021 Dec 23. CNS Neurosci Ther. 2022. PMID: 34951123 Free PMC article.

9

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Li XL, Li ZJ, Liang XY, Liu DT, Jiang M, Gao LD, Li H, Tang XQ, Shi YW, Li BM, He N, Li B, Bian WJ, Yi YH, Cheng CF, Wang J. Li XL, et al. Among authors: he n. Front Mol Neurosci. 2022 May 4;15:860662. doi: 10.3389/fnmol.2022.860662. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35600082 Free PMC article.

10

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Wang JY, Wang J, Lu XG, Song W, Luo S, Zou DF, Hua LD, Peng Q, Tian Y, Gao LD, Liao WP, He N. Wang JY, et al. Among authors: he n. Front Mol Neurosci. 2022 May 10;15:861159. doi: 10.3389/fnmol.2022.861159. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35620448 Free PMC article.

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