Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes-Reference-Cited by-同舟云学术

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Published:2019-02-27 Issue:1 Volume:25 Page:
ISSN:1076-1551
Container-title:Molecular Medicine
language:en
Short-container-title:Mol Med

Author:

Begemann Anaïs,Acuña Mario A.,Zweier Markus,Vincent Marie,Steindl Katharina,Bachmann-Gagescu Ruxandra,Hackenberg Annette,Abela Lucia,Plecko Barbara,Kroell-Seger Judith,Baumer Alessandra,Yamakawa Kazuhiro,Inoue Yushi,Asadollahi Reza,Sticht Heinrich,Zeilhofer Hanns Ulrich,Rauch Anita

Funder

radiz—Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases of the University of Zurich

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Forschungskredit UZH

Josef Huwyler Ruth Bernet-Engeli Stiftung

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s10020-019-0073-6.pdf

Reference55 articles.

1. Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. Biol Psychiatry. 2017;82:224–32.

2. Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, et al. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proc Natl Acad Sci U S A. 2018;115:E5516–E25.

3. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013;45:825–30.

4. Clatot J, Hoshi M, Wan X, Liu H, Jain A, Shinlapawittayatorn K, et al. Voltage-gated sodium channels assemble and gate as dimers. Nat Commun. 2017;8:2077.

5. Clatot J, Zheng Y, Girardeau A, Liu H, Laurita KR, Marionneau C, et al. Mutant voltage-gated Na(+) channels can exert a dominant negative effect through coupled gating. Am J Physiol Heart Circ Physiol. 2018;315:H1250–H7.

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