Jiao X - Search Results

1

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.

Jiao X, Morleo M, Nigro V, Torella A, D'Arrigo S, Ciaccio C, Pantaleoni C, Gong P, Grand K, Sanchez-Lara PA, Krier J, Fieg E, Stergachis A, Wang X, Yang Z. Jiao X, et al. Front Pharmacol. 2020 Dec 18;11:599191. doi: 10.3389/fphar.2020.599191. eCollection 2020. Front Pharmacol. 2020. PMID: 33390987 Free PMC article.

2

Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.

Jiao X, Xue J, Gong P, Wu Y, Zhang Y, Jiang Y, Yang Z. Jiao X, et al. Dev Med Child Neurol. 2020 Mar;62(3):315-321. doi: 10.1111/dmcn.14385. Epub 2019 Nov 18. Dev Med Child Neurol. 2020. PMID: 31737911 Free article.

3

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Jiao X, Xue J, Gong P, Bao X, Wu Y, Zhang Y, Jiang Y, Yang Z. Jiao X, et al. Orphanet J Rare Dis. 2020 Mar 27;15(1):78. doi: 10.1186/s13023-020-01365-0. Orphanet J Rare Dis. 2020. PMID: 32220244 Free PMC article.

4

Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report.

Gong P, Jiao X, Zhang Y, Yang Z. Gong P, et al. Among authors: jiao x. Front Genet. 2020 Aug 12;11:911. doi: 10.3389/fgene.2020.00911. eCollection 2020. Front Genet. 2020. PMID: 32903602 Free PMC article.

5

Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation.

Gong P, Jiao X, Zhang Y, Yang Z. Gong P, et al. Among authors: jiao x. Stem Cell Res. 2020 Dec;49:102080. doi: 10.1016/j.scr.2020.102080. Epub 2020 Nov 18. Stem Cell Res. 2020. PMID: 33232902 Free article.

6

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.

Jiao X, Gong P, Wu Y, Zhang Y, Yang Z. Jiao X, et al. Front Genet. 2021 Apr 1;12:644447. doi: 10.3389/fgene.2021.644447. eCollection 2021. Front Genet. 2021. PMID: 33868381 Free PMC article.

7

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.

Gong P, Xue J, Jiao X, Zhang Y, Yang Z. Gong P, et al. Among authors: jiao x. Front Genet. 2021 Apr 8;12:607965. doi: 10.3389/fgene.2021.607965. eCollection 2021. Front Genet. 2021. PMID: 33897753 Free PMC article.

8

Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.

Jiao X, Xue Y, Yang S, Gong P, Niu Y, Wang Q, Yang H, Xiong H, Zhang Y, Yang Z. Jiao X, et al. Dev Med Child Neurol. 2022 Jan;64(1):125-134. doi: 10.1111/dmcn.14976. Epub 2021 Jul 18. Dev Med Child Neurol. 2022. PMID: 34275143 Free article.

9

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.

Gong P, Jiao X, Yu D, Yang Z. Gong P, et al. Among authors: jiao x. Front Genet. 2021 Jun 30;12:649556. doi: 10.3389/fgene.2021.649556. eCollection 2021. Front Genet. 2021. PMID: 34276763 Free PMC article.

10

The relationship between the characteristics of burst suppression pattern and different etiologies in epilepsy.

Yang H, Gong P, Jiao X, Zhou Q, Zhang Y, Jiang Y, Yang Z. Yang H, et al. Among authors: jiao x. Sci Rep. 2021 Aug 5;11(1):15903. doi: 10.1038/s41598-021-95040-4. Sci Rep. 2021. PMID: 34354098 Free PMC article.

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