Epilepsy, familial adult myoclonic, 2

Preferred Label : Epilepsy, familial adult myoclonic, 2;

Symbol : FAME2;

CISMeF acronym : ADCME; BAFME2; FAME2; FCMTE2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BAFME2; FCMTE2; Cortical myoclonus and epilepsy, autosomal dominant; Cortical myoclonic tremor with epilepsy, familial, 2; Benign adult familial myoclonic epilepsy 2; ADCME;

Description : For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by pentanucleotide repeat expansion (ATTTC)n in the START domain-containing protein 7 gene (STARD7, 616712.0001);

Prefixed ID : #607876;

Details

Origin ID

607876;

UMLS CUI

C1842852;

Broader ORDO disease(s)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- Benign adult familial myoclonic epilepsy (disorder) [SNOMED CT concept]
- epilepsy, myoclonic, benign adult familial, type 2 [MeSH Supplementary Concept]
- epilepsy, myoclonic, benign adult familial, type 2 [MeSH concept]
DO Cross reference
- familial adult myoclonic epilepsy 2 [DO Concept]
Genes related to phenotype
- Start domain-containing protein 7 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Blepharospasm [HPO term]
- Cognitive impairment [HPO term]
- Dementia [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 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]
- Migraine [HPO term]
- Movements ('tremors') characterized by 8 to 10-Hz discharges [HPO term]
- Myoclonus [HPO term]
- Nonprogressive [HPO term]
- Photoparoxysmal response on EEG [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
See also inter- (CISMeF)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
- epilepsy, myoclonic, benign adult familial, type 2 [MeSH Supplementary Concept]
- epilepsy, myoclonic, benign adult familial, type 2 [MeSH concept]

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