Episodic Ataxia, Type 5 (EA5)

Alias:
Episodic Ataxia Type 5
Ea5
Ataxia, Episodic, Type 5
Episodic Ataxia 5
Ea-5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Episodic Ataxia, Type 5, also known as episodic ataxia type 5, is related to episodic ataxia and familial or sporadic hemiplegic migraine. An important gene associated with Episodic Ataxia, Type 5 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4), and among its related pathways/superpathways are Transmission across Chemical Synapses and MAPK signaling pathway. Affiliated tissues include brain and spinal cord, and related phenotypes are ataxia and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
8
87
2

Medical Symptom

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

Gene & Mutation

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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
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IF
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