DEE6B
MCID: DVL119
MIFTS: 13

Developmental and Epileptic Encephalopathy 6b (DEE6B)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 6b

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 6b:

Name: Developmental and Epileptic Encephalopathy 6b 57
Developmental and Epileptic Encephalopathy 6b, Non-Dravet 57
Dee6b 57

Classifications:



External Ids:

OMIM® 57 619317
OMIM Phenotypic Series 57 PS308350

Summaries for Developmental and Epileptic Encephalopathy 6b

OMIM® : 57 Developmental and epileptic encephalopathy-6B (DEE6B) is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Brain imaging usually shows progressive atrophy and other abnormalities (summary by Sadleir et al., 2017). (619317) (Updated 20-May-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 6b, is also known as developmental and epileptic encephalopathy 6b, non-dravet. An important gene associated with Developmental and Epileptic Encephalopathy 6b is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Affiliated tissues include eye and liver.

Related Diseases for Developmental and Epileptic Encephalopathy 6b

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 94
Developmental and Epileptic Encephalopathy 17 Developmental and Epileptic Encephalopathy 18
Developmental and Epileptic Encephalopathy 19 Developmental and Epileptic Encephalopathy 21
Developmental and Epileptic Encephalopathy 23 Developmental and Epileptic Encephalopathy 24
Developmental and Epileptic Encephalopathy 26 Developmental and Epileptic Encephalopathy 27
Developmental and Epileptic Encephalopathy 28 Developmental and Epileptic Encephalopathy 29
Developmental and Epileptic Encephalopathy 30 Developmental and Epileptic Encephalopathy 31
Developmental and Epileptic Encephalopathy 32 Developmental and Epileptic Encephalopathy 33
Developmental and Epileptic Encephalopathy 50 Developmental and Epileptic Encephalopathy 34
Developmental and Epileptic Encephalopathy 35 Developmental and Epileptic Encephalopathy 37
Developmental and Epileptic Encephalopathy 38 Developmental and Epileptic Encephalopathy 40
Developmental and Epileptic Encephalopathy 41 Developmental and Epileptic Encephalopathy 42
Developmental and Epileptic Encephalopathy 43 Developmental and Epileptic Encephalopathy 44
Developmental and Epileptic Encephalopathy 45 Developmental and Epileptic Encephalopathy 46
Developmental and Epileptic Encephalopathy 47 Developmental and Epileptic Encephalopathy 48
Developmental and Epileptic Encephalopathy 49 Developmental and Epileptic Encephalopathy 51
Developmental and Epileptic Encephalopathy 52 Developmental and Epileptic Encephalopathy 53
Developmental and Epileptic Encephalopathy 54 Developmental and Epileptic Encephalopathy 55
Developmental and Epileptic Encephalopathy 56 Developmental and Epileptic Encephalopathy 91
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 92
Developmental and Epileptic Encephalopathy 58 Developmental and Epileptic Encephalopathy 59
Developmental and Epileptic Encephalopathy 60 Developmental and Epileptic Encephalopathy 61
Developmental and Epileptic Encephalopathy 62 Developmental and Epileptic Encephalopathy 63
Developmental and Epileptic Encephalopathy 64 Developmental and Epileptic Encephalopathy 65
Developmental and Epileptic Encephalopathy 93 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89 Developmental and Epileptic Encephalopathy 6b

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 6b

Clinical features from OMIM®:

619317 (Updated 20-May-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 6b

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 6b

Genetic Tests for Developmental and Epileptic Encephalopathy 6b

Anatomical Context for Developmental and Epileptic Encephalopathy 6b

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 6b:

40
Eye, Liver

Publications for Developmental and Epileptic Encephalopathy 6b

Articles related to Developmental and Epileptic Encephalopathy 6b:

# Title Authors PMID Year
1
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 57
28794249 2017
2
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. 57
24776920 2014
3
Sleep abnormalities in children with Dravet syndrome. 57
24656210 2014
4
The spectrum of SCN1A-related infantile epileptic encephalopathies. 57
17347258 2007

Variations for Developmental and Epileptic Encephalopathy 6b

Expression for Developmental and Epileptic Encephalopathy 6b

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 6b.

Pathways for Developmental and Epileptic Encephalopathy 6b

GO Terms for Developmental and Epileptic Encephalopathy 6b

Sources for Developmental and Epileptic Encephalopathy 6b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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