Myoclonic-atonic epilepsy

Preferred Label : Myoclonic-atonic epilepsy;

Symbol : MAE;

CISMeF acronym : MAE;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 6 (neurotransmitter transporter, GABA), member 1 gene (SLC6A1, 137165.0001);

Prefixed ID : #616421;

Détails

Origin ID

616421;

UMLS CUI

C0393702;

Automatic exact mappings (from CISMeF team)
- Myoclonic-astatic epilepsy [ORDO Disease]
- anticonvulsants [MeSH Descriptor]
Currated CISMeF NLP mapping
- Myoclonic-Atonic Epilepsy [NCIt concept]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter, gaba), member 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Eyelid myoclonus [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Intellectual disability [HPO term]
- Scoliosis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Myoclonic-astatic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Doose syndrome [MedDRA LLT]
- Epilepsy with myoclonic-atonic seizures [MedDRA Preferred Term]
- Epilepsy with myoclonic-atonic seizures (disorder) [SNOMED CT concept]
- Generalized myoclonic-atonic seizure [HPO term]
- Myoclonic-Atonic Epilepsy [NCIt concept]
- Myoclonic-astatic epilepsy [MedDRA LLT]
- Myoclonic-astatic epilepsy [ORDO Disease]
- myoclonic astatic epilepsy [MeSH concept]
- myoclonic astatic epilepsy [Disease (Nov.)]

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