EPEDD
MCID: EPL253
MIFTS: 13

Epilepsy, Early-Onset, with or Without Developmental Delay (EPEDD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Early-Onset, with or Without Developmental Delay

MalaCards integrated aliases for Epilepsy, Early-Onset, with or Without Developmental Delay:

Name: Epilepsy, Early-Onset, with or Without Developmental Delay 56 6
Epedd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation (in some patients)
onset in the first days or years of life
one chinese family and 3 unrelated patients have been reported


Classifications:



External Ids:

OMIM 56 618832

Summaries for Epilepsy, Early-Onset, with or Without Developmental Delay

OMIM : 56 Early-onset epilepsy with or without developmental delay (EPEDD) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging (summary by Yu et al., 2019). (618832)

MalaCards based summary : Epilepsy, Early-Onset, with or Without Developmental Delay, is also known as epedd. An important gene associated with Epilepsy, Early-Onset, with or Without Developmental Delay is SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase). Affiliated tissues include brain.

Related Diseases for Epilepsy, Early-Onset, with or Without Developmental Delay

Symptoms & Phenotypes for Epilepsy, Early-Onset, with or Without Developmental Delay

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
delayed myelination
enlarged ventricles
epilepsy
white matter abnormalities
tonic-clonic seizures
more
Growth Other:
poor growth (patient a)

Clinical features from OMIM:

618832

Drugs & Therapeutics for Epilepsy, Early-Onset, with or Without Developmental Delay

Search Clinical Trials , NIH Clinical Center for Epilepsy, Early-Onset, with or Without Developmental Delay

Genetic Tests for Epilepsy, Early-Onset, with or Without Developmental Delay

Anatomical Context for Epilepsy, Early-Onset, with or Without Developmental Delay

MalaCards organs/tissues related to Epilepsy, Early-Onset, with or Without Developmental Delay:

40
Brain

Publications for Epilepsy, Early-Onset, with or Without Developmental Delay

Articles related to Epilepsy, Early-Onset, with or Without Developmental Delay:

# Title Authors PMID Year
1
De Novo and Inherited SETD1A Variants in Early-onset Epilepsy. 6 56
31197650 2019

Variations for Epilepsy, Early-Onset, with or Without Developmental Delay

ClinVar genetic disease variations for Epilepsy, Early-Onset, with or Without Developmental Delay:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD1A NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)SNV Pathogenic 834090 16:30978876-30978876 16:30967555-30967555
2 SETD1A NM_014712.3(SETD1A):c.806A>G (p.Gln269Arg)SNV Pathogenic 834091 16:30975581-30975581 16:30964260-30964260
3 SETD1A NM_014712.3(SETD1A):c.4105G>A (p.Gly1369Arg)SNV Pathogenic 834092 16:30991212-30991212 16:30979891-30979891
4 SETD1A NM_014712.3(SETD1A):c.4175G>A (p.Arg1392His)SNV Pathogenic 834093 16:30991282-30991282 16:30979961-30979961

Expression for Epilepsy, Early-Onset, with or Without Developmental Delay

Search GEO for disease gene expression data for Epilepsy, Early-Onset, with or Without Developmental Delay.

Pathways for Epilepsy, Early-Onset, with or Without Developmental Delay

GO Terms for Epilepsy, Early-Onset, with or Without Developmental Delay

Sources for Epilepsy, Early-Onset, with or Without Developmental Delay

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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