Familial Adult Myoclonic Epilepsy (FAM)

Alias:
Benign Adult Familial Myoclonus Epilepsy
Familial Cortical Myoclonic Tremor and Epilepsy
Benign Adult Familial Myoclonic Epilepsy
Bafme
Fcmte
Fame
Autosomal Dominant Cortical Myoclonus and Epilepsy
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Epilepsy, Myoclonic, Familial Adult
Adcme
Fam
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Adult Myoclonic Epilepsy, also known as benign adult familial myoclonus epilepsy, is related to epilepsy, familial adult myoclonic, 5 and epilepsy, familial adult myoclonic, 1, and has symptoms including myoclonus An important gene associated with Familial Adult Myoclonic Epilepsy is SAMD12 (Sterile Alpha Motif Domain Containing 12), and among its related pathways/superpathways is 2q11.2 copy number variation syndrome. The drugs Fluocinolone acetonide and glucocorticoids have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are eeg abnormality and myoclonus
Related ID:
ICD11:1036649329

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
44
294
--

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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