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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601068
http://purl.bioontology.org/ontology/OMIM/601068
|
|---|---|
| Preferred Name | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 |
| Synonyms |
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1
BAFME1
FAME1
FCMTE1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1
BAFME1
FAME1
FCMTE1
|
|---|---|
| prefLabel | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
|
| Gene Symbol | SAMD12
|
| Scope Statement | High frequency in the Chinese and Japanese populations [MISCELLANEOUS]
Childhood onset has been reported [MISCELLANEOUS]
Adult onset (mean age 37 years) [MISCELLANEOUS]
Tremor is aggravated by emotional stress [MISCELLANEOUS]
Some patients may have a homozygous mutation, which is associated with a more severe phenotype with earlier onset [MISCELLANEOUS]
Anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) [MISCELLANEOUS]
Tremor may be elicited by movement or postural maintenance [MISCELLANEOUS]
Caused by a repeat expansion in the sterile alpha motif domain containing 12 gene (SAMD12, 618073.0001) [MOLECULAR BASIS]
Nonprogressive course [MISCELLANEOUS]
Genetic anticipation [MISCELLANEOUS]
Clinically resembles essential tremor, but not responsive to beta-adrenergic blockers [MISCELLANEOUS]
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| Has manifestation |
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| tui | T047
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| Gene Locus | 8q24.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 601068
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1832841
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |