Details of Disease

General Information of Disease (ID: DISA3UBY)

Disease Name Developmental and epileptic encephalopathy, 21
Synonyms
developmental and epileptic encephalopathy 21; EIEE21; early infantile epileptic encephalopathy caused by mutation in NECAP1; DEE21; epileptic encephalopathy, early infantile, 21; NECAP1 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 21
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DISA3UBY: Developmental and epileptic encephalopathy, 21
Disease Identifiers
MONDO ID
MONDO_0014360
UMLS CUI
C4014430
OMIM ID
615833
MedGen ID
862867

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GNAO1 TTAXD8Z Limited CausalMutation [1]
KCNQ2 TTPXI3S Limited CausalMutation [2]
SCN8A TT54ERL Limited Genetic Variation [3]
SCN1A TTANOZH Strong CausalMutation [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NECAP1 OTH49JRW Strong Autosomal recessive [5]
STXBP1 OTRYA8C3 Strong CausalMutation [6]
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References

1 Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.BMC Med Genomics. 2018 Feb 1;11(1):6. doi: 10.1186/s12920-018-0320-7.
2 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Clin Genet. 2017 May;91(5):717-724. doi: 10.1111/cge.12901. Epub 2017 Feb 16.
3 De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Genet Med. 2018 Feb;20(2):275-281. doi: 10.1038/gim.2017.100. Epub 2017 Sep 28.
4 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.
5 NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J Med Genet. 2014 Apr;51(4):224-8. doi: 10.1136/jmedgenet-2013-102030. Epub 2014 Jan 7.
6 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.