Details of Disease

General Information of Disease (ID: DISXSVTK)

Disease Name Developmental and epileptic encephalopathy, 13
Synonyms
SCN8A epilepsy; SCN8A encephalopathy; epileptic encephalopathy, early infantile, 13; early infantile epileptic encephalopathy caused by mutation in SCN8A; DEE13; epileptic encephalopathy, early infantile, type 13; developmental and epileptic encephalopathy 13; SCN8A early infantile epileptic encephalopathy; EIEE13; early infantile epileptic encephalopathy-13
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DISXSVTK: Developmental and epileptic encephalopathy, 13
Disease Identifiers
MONDO ID
MONDO_0013801
UMLS CUI
C3281191
OMIM ID
614558
MedGen ID
482821
SNOMED CT ID
765170001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN8A TT54ERL Limited Genetic Variation [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN8A DTIMSBJ 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
SCN8A OT0JGIZN 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.