loading...| Preferred Name |
MYOCLONIC-ATONIC EPILEPSY |
|
| Synonyms |
MAE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/616421 |
|
| altLabel |
MAE |
|
| cui |
C0393702 |
|
| Gene Locus |
3p25-p24 |
|
| Gene Symbol |
SLC6A1 MAE GABATR |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU069994 http://purl.bioontology.org/ontology/OMIM/MTHU051715 http://purl.bioontology.org/ontology/OMIM/MTHU045720 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU051714 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU036349 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
616421 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOCLONIC-ATONIC EPILEPSY |
|
| Scope Statement |
Caused by mutation in the solute carrier family 6 (neurotransmitter transporter, GABA), member 1 gene (SLC6A1, 137165.0001) [MOLECULAR BASIS] Onset in first years of life [MISCELLANEOUS] Seizures may remit later in childhood [MISCELLANEOUS] |
|
| tui |
T047 |