A novel recurrent mutation in ATP1A3 causes CAPOS syndrome-Reference-Cited by-同舟云学术

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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Published:2014 Issue:1 Volume:9 Page:15
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Demos Michelle K,van Karnebeek Clara DM,Ross Colin JD,Adam Shelin,Shen Yaoqing,Zhan Shing Hei,Shyr Casper,Horvath Gabriella,Suri Mohnish,Fryer Alan,Jones Steven JM,Friedman Jan M,

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference20 articles.

1. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

2. Mutations in EZH2 Cause Weaver Syndrome

3. dbSNP: the NCBI database of genetic variation

4. The functional spectrum of low-frequency coding variation

5. P-Type ATPases

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1. Childhood fever and hearing loss associated with CAPOS syndrome;Auris Nasus Larynx;2024-08

2. Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase:Atp1a3^tm1Ling/+andAtp1a3^+/D801Y;eneuro;2024-08

3. Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review;Rambam Maimonides Medical Journal;2024-07-30

4. CAPOS Syndrome with Fluctuating Symptoms;Journal of Pediatric Neurology;2024-06-26

5. ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever;Neurology Genetics;2024-06

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