DEE62
MCID: DVL086
MIFTS: 23

Developmental and Epileptic Encephalopathy 62 (DEE62)

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 62

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 62:

Name: Developmental and Epileptic Encephalopathy 62 57 12
Early Infantile Epileptic Encephalopathy 62 12 29 6
Epileptic Encephalopathy, Early Infantile, 62 57 73
Eiee62 57 73
Dee62 57 12
Epileptic Encephalopathy, Early Infantile, 62; Eiee62 57
Encephalopathy, Epileptic, Early Infantile, Type 62 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of seizures in the first days or weeks of life
four unrelated patients have been reported (last curated april 2018)


HPO:

31
developmental and epileptic encephalopathy 62:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 62

OMIM® : 57 Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by Zaman et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. (617938) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 62, is also known as early infantile epileptic encephalopathy 62. An important gene associated with Developmental and Epileptic Encephalopathy 62 is SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3). Related phenotypes are microcephaly and polymicrogyria

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has material basis in heterozygous mutation in the SCN3A gene on chromosome 2q24.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 62: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE62 is characterized by onset of seizures in the first year of life.

Related Diseases for Developmental and Epileptic Encephalopathy 62

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 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 57 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 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

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 62

Human phenotypes related to Developmental and Epileptic Encephalopathy 62:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 polymicrogyria 31 very rare (1%) HP:0002126
3 cerebral visual impairment 31 very rare (1%) HP:0100704
4 failure to thrive 31 HP:0001508
5 dysphagia 31 HP:0002015
6 global developmental delay 31 HP:0001263
7 spastic tetraplegia 31 HP:0002510
8 absent speech 31 HP:0001344
9 hypoplasia of the corpus callosum 31 HP:0002079
10 feeding difficulties 31 HP:0011968
11 generalized hypotonia 31 HP:0001290
12 inability to walk 31 HP:0002540
13 hypsarrhythmia 31 HP:0002521
14 epileptic encephalopathy 31 HP:0200134
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
spastic tetraplegia
inability to walk
hypsarrhythmia
epileptic encephalopathy
hypotonia
more
Head And Neck Eyes:
cortical blindness (in some patients)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

617938 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 62

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 62

Genetic Tests for Developmental and Epileptic Encephalopathy 62

Genetic tests related to Developmental and Epileptic Encephalopathy 62:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 62 29 SCN3A

Anatomical Context for Developmental and Epileptic Encephalopathy 62

Publications for Developmental and Epileptic Encephalopathy 62

Articles related to Developmental and Epileptic Encephalopathy 62:

# Title Authors PMID Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. 57 6
29466837 2018

Variations for Developmental and Epileptic Encephalopathy 62

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 62:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN3A NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) SNV Pathogenic 379838 rs1057520753 2:165954003-165954003 2:165097493-165097493
2 SCN3A NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) SNV Pathogenic 521063 rs1553517274 2:165947357-165947357 2:165090847-165090847
3 SCN3A NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) SNV Pathogenic 373960 rs1057518801 2:165986748-165986748 2:165130238-165130238
4 SCN3A NM_006922.4(SCN3A):c.2947_2949TTG[1] (p.Leu984del) Microsatellite Likely pathogenic 801773 rs1574159505 2:165984582-165984584 2:165128072-165128074
5 SCN3A NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) SNV Uncertain significance 801774 rs778744191 2:165994430-165994430 2:165137920-165137920
6 SCN3A NM_006922.4(SCN3A):c.1032-7C>T SNV Uncertain significance 982804 2:166012420-166012420 2:165155910-165155910
7 SCN3A NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) SNV Uncertain significance 664858 rs146618194 2:165947080-165947080 2:165090570-165090570
8 SCN3A NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) SNV Uncertain significance 982805 2:166021023-166021023 2:165164513-165164513
9 SCN3A NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) SNV Uncertain significance 194858 rs144957412 2:165984281-165984281 2:165127771-165127771
10 SCN3A NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) SNV Uncertain significance 240708 rs751294193 2:165996117-165996117 2:165139607-165139607
11 SCN3A NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) SNV Uncertain significance 194238 rs199975643 2:165997177-165997177 2:165140667-165140667

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 62:

73
# Symbol AA change Variation ID SNP ID
1 SCN3A p.Ile875Thr VAR_080506 rs105751880
2 SCN3A p.Pro1333Leu VAR_080508 rs105752075
3 SCN3A p.Val1769Ala VAR_080511 rs155351727

Expression for Developmental and Epileptic Encephalopathy 62

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 62.

Pathways for Developmental and Epileptic Encephalopathy 62

GO Terms for Developmental and Epileptic Encephalopathy 62

Sources for Developmental and Epileptic Encephalopathy 62

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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