Mitochondrial Disease with Epilepsy

Alias:
Epilepsy, Mitochondrial
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Disease with Epilepsy, also known as epilepsy, mitochondrial, is related to mitochondrial disease and pyruvate dehydrogenase e1-alpha deficiency. An important gene associated with Mitochondrial Disease with Epilepsy is MT-TF (Mitochondrially Encoded TRNA-Phe (UUU/C)). Affiliated tissues include temporal lobe.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Mutations
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Related Drugs

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Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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