Details of Disease

General Information of Disease (ID: DISOF3OT)

Disease Name Developmental and epileptic encephalopathy, 19
Synonyms
EIEE19; developmental and epileptic encephalopathy 19; epileptic encephalopathy, early infantile, 19; early infantile epileptic encephalopathy caused by mutation in GABRA1; epileptic encephalopathy, early infantile, type 19; DEE19; GABRA1 early infantile epileptic encephalopathy; Early Infantile epileptic encephalopathy 19
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISOF3OT: Developmental and epileptic encephalopathy, 19
Disease Identifiers
MONDO ID
MONDO_0014328
UMLS CUI
C3810400
OMIM ID
615744
MedGen ID
816730

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRA1 TT1MPAY Strong Genetic Variation [1]
GABRA1 TT1MPAY Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GABRA1 OTC2W96H Definitive Autosomal dominant [2]
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References

1 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.