Details of Disease

General Information of Disease (ID: DISTFDNW)

Disease Name Developmental and epileptic encephalopathy, 2
Synonyms
infantile spasm syndrome, X-linked 2; epileptic encephalopathy, early infantile, type 2; EIEE2; developmental and epileptic encephalopathy 2, X-linked dominant; epileptic encephalopathy, early infantile, 2; early infantile epileptic encephalopathy caused by mutation in CDKL5; DEE2; developmental and epileptic encephalopathy, 2; CDKL5 early infantile epileptic encephalopathy
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
Disease Hierarchy
DISWF699: Atypical Rett syndrome
DISLIAU9: West syndrome
DIS80GDF: Monogenic epilepsy
DIS2OAEX: CDKL5 disorder
DISZOCA3: Epileptic encephalopathy
DISTFDNW: Developmental and epileptic encephalopathy, 2
Disease Identifiers
MONDO ID
MONDO_0010396
MESH ID
C564064
UMLS CUI
C4750718
OMIM ID
300672
MedGen ID
1663579
Orphanet ID
505652
SNOMED CT ID
773230003

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
HTR7 TTO9X1H Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLIP1 OTTGAEJE Limited Biomarker [2]
CDKL5 OTGL5HRV Definitive X-linked [3]
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References

1 Rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of CDKL5 Deficiency Disorder.Neuropharmacology. 2019 Jan;144:104-114. doi: 10.1016/j.neuropharm.2018.10.018. Epub 2018 Oct 13.
2 Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder.Neuropharmacology. 2020 Mar 1;164:107897. doi: 10.1016/j.neuropharm.2019.107897. Epub 2019 Nov 30.
3 Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7.