Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance-Reference-Cited by-同舟云学术

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Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

Published:2021-03 Issue:3 Volume:43 Page:470-474
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Hiraide Takuya,Fukumura Shinobu,Yamamoto Akiyo,Nakashima Mitsuko,Saitsu Hirotomo

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. Clinical evaluation of membrane excitability in muscle channel disorders: potential applications in clinical trials;Cleland;Neurotherapeutics,2007

2. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1;Kokunai;Neurology,2014

3. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data;Wang;Nucl Acids Res,2010

4. Human genetic variation database, a reference database of genetic variations in the Japanese population;Higasa;J Hum Genet,2016

5. 3.5KJPNv2: An Allele Frequency Panel of 3552 Japanese Individuals Including the X Chromosome;Tadaka;Hum Genome Var,2019

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1. Drug repurposing in skeletal muscle ion channelopathies;Current Opinion in Pharmacology;2023-02

2. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay;Brain and Development;2022-02

3. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy;Cells;2021-06-16

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