Episodic Ataxia, Type 6 (EA6)

Alias:
Episodic Ataxia Type 6
Ea6
Ataxia, Episodic, Type 6
Episodic Ataxia 6
Ea-6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Episodic Ataxia, Type 6, also known as episodic ataxia type 6, is related to hemiplegia and spinocerebellar ataxia 6. An important gene associated with Episodic Ataxia, Type 6 is SLC1A3 (Solute Carrier Family 1 Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain and spinal cord, and related phenotypes are nausea and vomiting and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
14
125
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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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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