loading...| Preferred Name | Myoclonic-Atonic Epilepsy | |
| Synonyms |
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| Definitions |
An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C165674 |
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| code |
C165674 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures. |
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| in_subset | ||
| label |
Myoclonic-Atonic Epilepsy |
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| Preferred_Name |
Myoclonic-Atonic Epilepsy |
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| prefixIRI |
NCIT:C165674 |
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| prefLabel |
Myoclonic-Atonic Epilepsy |
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| Semantic_Type |
Finding |
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| UMLS_CUI |
C0393702 |
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| subClassOf |