Epilepsy, Familial Adult Myoclonic, 5 (FAME5)

Alias:
Fcmte5
Fame5
Cortical Myoclonic Tremor with Epilepsy, Familial, 5
Familial Adult Myoclonic Epilepsy 5
Familial Cortical Myoclonic Tremor with Epilepsy 5
Familial Cortical Myoclonic Tremor and Epilepsy 5
Epilepsy, Myoclonic, Familial Adult, Type 5
Epilepsy, Myoclonic, Familial Adult, 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Familial Adult Myoclonic, 5, also known as fcmte5, is related to epilepsy, familial adult myoclonic, 2 and familial adult myoclonic epilepsy, and has symptoms including depressive symptoms and myoclonic seizures. An important gene associated with Epilepsy, Familial Adult Myoclonic, 5 is CNTN2 (Contactin 2). Related phenotypes are tremor and myoclonus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
27
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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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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