DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum-Reference-Cited by-同舟云学术

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DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

Published:2023 Issue: Volume:21 Page:100580
ISSN:2589-9864
Container-title:Epilepsy & Behavior Reports
language:en
Short-container-title:Epilepsy & Behavior Reports

Author:

Chung Chi-Ting,Lee Ni-Chung,Fan Sung-Pin,Hung Miao-Zi,Lin Yen-Heng,Chen Chih-Hao,Jao Tun

Funder

Ministry of Science and Technology, Taiwan

National Taiwan University Hospital

Publisher

Elsevier BV

Subject

Behavioral Neuroscience,Neurology (clinical),Neurology

Reference22 articles.

1. Structure and functional role of dynein's microtubule-binding domain;Carter;Science,2008

2. H.T. Hoang M.A. Schlager A.P. Carter S.L. Bullock DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes Proc Natl Acad Sci U S A. 114 9 2017 pp. E1597–E606.https://doi.org/10.1073/pnas.1620141114.

3. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1;Strickland;J Neurol,2015

4. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly;Poirier;Nat Genet,2013

5. S. Amabile L. Jeffries J.M. McGrath W. Ji M. Spencer-Manzon H. Zhang et al. DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants Am J Med Genet A. 182 9 2020 pp. 2049–57.https://doi.org/10.1002/ajmg.a.61729.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders;Seizure: European Journal of Epilepsy;2023-10

2. Antiepileptic drugs;Reactions Weekly;2023-05-20

3. Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review;Frontiers in Neurology;2023-04-25

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