Episodic Ataxia, Type 4 (EA4)

Alias:
Episodic Ataxia Type 4
Periodic Vestibulocerebellar Ataxia
Patx
Ataxia, Periodic Vestibulocerebellar
Ea4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Episodic Ataxia, Type 4, also known as episodic ataxia type 4, is related to episodic ataxia, type 2 and episodic ataxia, type 1, and has symptoms including ataxia, muscle spasticity and nausea. An important gene associated with Episodic Ataxia, Type 4 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4), and among its related pathways/superpathways are Transmission across Chemical Synapses and Fc-GammaR Pathway. Affiliated tissues include pancreas, and related phenotypes are ataxia and diplopia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
7
76
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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