Cognitive Impairment with or Without Cerebellar Ataxia (CIAT)

Alias:
Ciat
Cognitive Impairment Without Cerebellar Ataxia
Cognitive Impairment, Ataxia, Cerebellar
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cognitive Impairment with or Without Cerebellar Ataxia, also known as ciat, is related to aphasia and early infantile epileptic encephalopathy. An important gene associated with Cognitive Impairment with or Without Cerebellar Ataxia is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include brain and kidney, and related phenotypes are intellectual disability and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
30
6

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

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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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