A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode-Reference-Cited by-同舟云学术

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Published:2022-09 Issue:9 Volume:109 Page:1713-1723
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Marafi Dana^ORCID,Kozar Nina,Duan Ruizhi,Bradley Stephen,Yokochi Kenji,Al Mutairi Fuad,Saadi Nebal Waill,Whalen Sandra,Brunet Theresa,Kotzaeridou Urania,Choukair Daniela,Keren Boris,Nava Caroline,Kato Mitsuhiro,Arai Hiroshi,Froukh Tawfiq,Faqeih Eissa Ali,AlAsmari Ali M.,Saleh Mohammed M.,Pinto e Vairo Filippo,Pichurin Pavel N.,Klee Eric W.,Schmitz Christopher T.,Grochowski Christopher M.,Mitani Tadahiro,Herman Isabella,Calame Daniel G.,Fatih Jawid M.,Du Haowei,Coban-Akdemir Zeynep,Pehlivan Davut,Jhangiani Shalini N.,Gibbs Richard A.,Miyatake Satoko,Matsumoto Naomichi,Wagstaff Laura J.,Posey Jennifer E.,Lupski James R.,Meijer Dies,Wagner Matias

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. LGI proteins in the nervous system;Kegel;ASN Neuro,2013

2. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders;Staub;Trends Biochem. Sci.,2002

3. Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain;Herranz-Pérez;Brain Res.,2010

4. The claw paw mutation reveals a role for Lgi4 in peripheral nerve development;Bermingham;Nat. Neurosci.,2006

5. Leucine-rich glioma inactivated 3 associates with syntaxin 1;Park;Neurosci. Lett.,2008

Cited by 4 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. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders;Neurotherapeutics;2024-01

2. Oligodendrocyte-derived LGI3 and its receptor ADAM23 organize juxtaparanodal Kv1 channel clustering for short-term synaptic plasticity;Cell Reports;2024-01

3. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings;2023-04-25

4. LGI3/2–ADAM23 interactions cluster Kv1 channels in myelinated axons to regulate refractory period;Journal of Cell Biology;2023-02-24