Details of Disease | DrugMAP

General Information of Disease (ID: DISEA9U2)

Disease Name	Developmental and epileptic encephalopathy, 14
Synonyms	KCNT1 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 14; DEE14; developmental and epileptic encephalopathy 14; EIEE14; early infantile epileptic encephalopathy caused by mutation in KCNT1; epileptic encephalopathy, early infantile, 14
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISEA9U2: Developmental and epileptic encephalopathy, 14
Disease Identifiers	MONDO ID MONDO_0013989 UMLS CUI C3554195 OMIM ID 614959 MedGen ID 767109

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
KCNT1	TTGJFK1	Strong	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
KCNT1	DTTHWCM	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
KCNT1	OTIFGW9Z	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	De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.