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Employment (1)

Zhejiang University School of Medicine Second Affiliated Hospital: Hangzhou, Zhejiang, CN

Employment
Source: Self-asserted source
Pu Miao

Funding (1)

National Natural Science Foundation of China

Grant
National Natural Science Foundation of China (CN, CN)
GRANT_NUMBER:

82101515
Source: Self-asserted source
Pu Miao

Works (12)

Ketogenic diet therapy leads to antiseizure medication reduction in children and adults with drug‐resistant epilepsy

CNS Neuroscience & Therapeutics
2024-07 | Journal article
DOI: 10.1111/cns.14854
Contributors: Fang He; Lingqi Ye; Leilei Wang; Jiping Zhou; Xiaotong Shao; Pu Miao; Shan Wang; Hong Li; Yao Ding; Shuang Wang
Source: check_circle
Crossref

Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder

Molecular Genetics & Genomic Medicine
2024-02 | Journal article
DOI: 10.1002/mgg3.2389
Contributors: Yuting Lou; Xinglei Shi; Guofa Su; Yufan Guo; Liuyan Gao; Ye Wang; Pu Miao; Jianhua Feng
Source: check_circle
Crossref

Long‐term ketogenic diet therapy improves mitochondrial encephalopathy with lactic acidosis and stroke‐like episodes (MELAS): A case report

CNS Neuroscience & Therapeutics
2023-09 | Journal article
DOI: 10.1111/cns.14274
Contributors: Fang He; Lingqi Ye; Pu Miao; Jiong Zhou; Yao Ding; Shuang Wang
Source: check_circle
Crossref

Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology

Annals of Clinical and Translational Neurology
2023-08 | Journal article
DOI: 10.1002/acn3.51828
Contributors: Pu Miao; Xueying Zhu; Wenqin Jin; Lingyan Yu; Yanfang Li; Ye Wang; Qunyan Su; Sha Xu; Shuang Wang; Jianhua Feng
Source: check_circle
Crossref

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.

Frontiers in molecular neuroscience
2023-07-11 | Journal article
DOI: 10.3389/fnmol.2023.1205265
PMID: 37497102
Contributors: Ye J; Tang S; Miao P; Gong Z; Shu Q; Feng J; Li Y
Source: Self-asserted source
Pu Miao

Retinoic Acid Supplementation Rescues the Social Deficits in Fmr1 Knockout Mice

Frontiers in Genetics
2022-06-17 | Journal article
DOI: 10.3389/fgene.2022.928393
Part of ISSN: 1664-8021
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao

Giant axonal neuropathy ( <scp>GAN</scp> ) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in <scp> <i>GAN</i> </scp> gene

American Journal of Medical Genetics Part A
2022-03 | Journal article
DOI: 10.1002/ajmg.a.62592
Part of ISSN: 1552-4825
Part of ISSN: 1552-4833
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao

Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep

Frontiers in Neurology
2021-05-19 | Journal article
DOI: 10.3389/fneur.2021.653517
Part of ISSN: 1664-2295
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

neurogenetics
2020-07 | Journal article
DOI: 10.1007/s10048-020-00608-3
Part of ISSN: 1364-6745
Part of ISSN: 1364-6753
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao

Electrophysiological features: The next precise step for <i>SCN2A</i> developmental epileptic encephalopathy

Molecular Genetics &amp; Genomic Medicine
2020-07 | Journal article
DOI: 10.1002/mgg3.1250
Part of ISSN: 2324-9269
Part of ISSN: 2324-9269
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao
grade
Preferred source (of 2)‎

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients

Clinical Genetics
2018-12 | Journal article
DOI: 10.1111/cge.13441
Part of ISSN: 0009-9163
Part of ISSN: 1399-0004
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao
grade
Preferred source (of 2)‎

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

Scientific Reports
2017-05 | Journal article
DOI: 10.1038/srep46227
Part of ISSN: 2045-2322
Contributors: Pu Miao
Source: Self-asserted source
Pu Miao
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