Meng H - Search Results

1

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: meng h. Neurogenetics. 2018 Jan;19(1):9-16. doi: 10.1007/s10048-017-0528-2. Epub 2017 Nov 13. Neurogenetics. 2018. PMID: 29130122

2

The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.

Meng H, Xu HQ, Yu L, Lin GW, He N, Su T, Shi YW, Li B, Wang J, Liu XR, Tang B, Long YS, Yi YH, Liao WP. Meng H, et al. Hum Mutat. 2015 Jun;36(6):573-80. doi: 10.1002/humu.22782. Epub 2015 Apr 13. Hum Mutat. 2015. PMID: 25754450

3

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.

Liu XR, Huang D, Wang J, Wang YF, Sun H, Tang B, Li W, Lai JX, He N, Wu M, Su T, Meng H, Shi YW, Li BM, Tang BS, Liao WP. Liu XR, et al. Among authors: meng h. Neurol Genet. 2016 Mar 22;2(2):e66. doi: 10.1212/NXG.0000000000000066. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123484 Free PMC article.

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. Among authors: meng h. 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. Among authors: meng h. 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

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

Li W, Wang Y, Li B, Tang B, Sun H, Lai J, He N, Li B, Meng H, Liao W, Liu X. Li W, et al. Among authors: meng h. Brain Behav. 2018 Nov;8(11):e01134. doi: 10.1002/brb3.1134. Epub 2018 Oct 11. Brain Behav. 2018. PMID: 30307717 Free PMC article.

7

Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH. Chen ZR, et al. Among authors: meng h. Seizure. 2019 Jul;69:180-185. doi: 10.1016/j.seizure.2018.08.027. Epub 2018 Sep 2. Seizure. 2019. PMID: 31059981 Free article.

8

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.

Liu L, Chen ZR, Xu HQ, Liu DT, Mao Y, Liu HK, Liu XR, Zhou P, Lin SM, Li B, He N, Su T, Zhai QX, Meng H, Liao WP, Yi YH. Liu L, et al. Among authors: meng h. Front Neurosci. 2020 Aug 11;14:821. doi: 10.3389/fnins.2020.00821. eCollection 2020. Front Neurosci. 2020. PMID: 32848577 Free PMC article.

9

ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities.

Zhou P, Meng H, Liang X, Lei X, Zhang J, Bian W, He N, Lin Z, Song X, Zhu W, Hu B, Li B, Yan L, Tang B, Su T, Liu H, Mao Y, Zhai Q, Yi Y. Zhou P, et al. Among authors: meng h. Front Mol Neurosci. 2022 Jun 23;15:864074. doi: 10.3389/fnmol.2022.864074. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35813073 Free PMC article.

10

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.

Lin ZJ, Li B, Lin PX, Song W, Yan LM, Meng H, He N. Lin ZJ, et al. Among authors: meng h. Seizure. 2024 Mar;116:24-29. doi: 10.1016/j.seizure.2023.02.011. Epub 2023 Feb 11. Seizure. 2024. PMID: 36842888 Free article.

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