Epilepsy, familial adult myoclonic, 1

Preferred Label : Epilepsy, familial adult myoclonic, 1;

Symbol : FAME1;

CISMeF acronym : BAFME1; FAME1; FCMTE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cortical myoclonic tremor with epilepsy, familial, 1; BAFME1; FCMTE1; Benign adult familial myoclonic epilepsy 1;

Description : This form of familial adult myoclonic epilepsy (FAME1) has been mapped to chromosome 8q24. Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). - Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See FAME2 (607876), which maps to chromosome 2p11.1-q12.2; FAME3 (613608), which maps to chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; and FAME5 (615400), which is caused by mutation in the CNTN2 gene (190197) on chromosome 1q32.1. Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a repeat expansion in the sterile alpha motif domain containing 12 gene (SAMD12, 618073.0001);

Prefixed ID : #601068;

Details

Origin ID

601068;

UMLS CUI

C1832841;

Broader ORDO disease(s)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- epilepsy, myoclonic, benign adult familial, type 1 [MeSH concept]
- epilepsy, myoclonic, benign adult familial, type 1 [MeSH Supplementary Concept]
DO Cross reference
- familial adult myoclonic epilepsy 1 [DO Concept]
Genes related to phenotype
- Sterile alpha motif domain-containing protein 12 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- EEG with irregular generalized spike and wave complexes [HPO term]
- EEG with photoparoxysmal response [HPO term]
- Electrophysiologic studies indicate cortical origin [HPO term]
- Enhancement of the C-reflex [HPO term]
- Epilepsy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized tonic-clonic seizures (GTCS), infrequent [HPO term]
- Giant somatosensory evoked potentials [HPO term]
- Intellectual disability [HPO term]
- Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers [HPO term]
- Jerk-locked premyoclonus spikes [HPO term]
- Movements ('tremors') characterized by 8 to 10-Hz discharges [HPO term]
- Nonprogressive [HPO term]
- Photoparoxysmal response on EEG [HPO term]
- Tremor [HPO term]
Manual NTBT mappings (CISMeF)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
ORDO concept(s)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epilepsy, myoclonic, benign adult familial, type 1 [MeSH Supplementary Concept]
- epilepsy, myoclonic, benign adult familial, type 1 [MeSH concept]

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