Epilepsy, familial adult myoclonic, 3

Preferred Label : Epilepsy, familial adult myoclonic, 3;

Symbol : FAME3;

CISMeF acronym : FAME3; FCMTE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FCMTE3; Cortical myoclonic tremor with epilepsy, familial, 3;

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 (TTTCA)n in the membrane-associated RING-CH finger protein 6 gene (MARCHF6, 613297.0001);

Prefixed ID : #613608;

Details

Origin ID

613608;

UMLS CUI

C3150860;

Currated CISMeF NLP mapping
- epilepsy, familial adult myoclonic, 3 [MeSH concept]
- epilepsy, familial adult myoclonic, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial adult myoclonic epilepsy 3 [DO Concept]
Genes related to phenotype
- Membrane-associated ring-ch finger protein 6 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- Difficulty walking [HPO term]
- EEG with photoparoxysmal response [HPO term]
- Enhancement of the C-reflex [HPO term]
- Focal-onset seizure [HPO term]
- Giant somatosensory evoked potentials [HPO term]
- Jerk-locked premyoclonus spikes [HPO term]
- Myoclonus [HPO term]
- Nonprogressive [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, familial adult myoclonic, 3 [MeSH Supplementary Concept]
- epilepsy, familial adult myoclonic, 3 [MeSH concept]

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