DEE19
MCID: DVL047
MIFTS: 25

Developmental and Epileptic Encephalopathy 19 (DEE19)

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 19

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 19:

Name: Developmental and Epileptic Encephalopathy 19 57 12
Epileptic Encephalopathy, Early Infantile, 19 57 73 29 6
Eiee19 57 73
Dee19 57 12
Epileptic Encephalopathy, Early Infantile, 19; Eiee19 57
Encephalopathy, Epileptic, Early Infantile, Type 19 39
Early Infantile Epileptic Encephalopathy 19 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset of seizures between 8 and 11 months of age
seizures are fever-sensitive


HPO:

31
developmental and epileptic encephalopathy 19:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 19

OMIM® : 57 Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; 607208) (summary by Carvill et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615744) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 19, is also known as epileptic encephalopathy, early infantile, 19, and has symptoms including myoclonic seizures and absence seizures. An important gene associated with Developmental and Epileptic Encephalopathy 19 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1). Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has material basis in heterozygous mutation in the GABRA1 gene on chromosome 5q34.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 19: A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability.

Related Diseases for Developmental and Epileptic Encephalopathy 19

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 19

Human phenotypes related to Developmental and Epileptic Encephalopathy 19:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 status epilepticus 31 HP:0002133
4 epileptic encephalopathy 31 HP:0200134
5 atonic seizure 31 HP:0010819
6 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
7 generalized non-motor (absence) seizure 31 HP:0002121
8 focal hemiclonic seizure 31 HP:0006813

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
status epilepticus
epileptic encephalopathy
febrile seizures
hemiclonic seizures
more
Head And Neck Eyes:
optic atrophy (one patient)

Head And Neck Head:
microcephaly, postnatal (one patient)
brachycephaly (one patient)

Clinical features from OMIM®:

615744 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 19:


myoclonic seizures, absence seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 19

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 19

Genetic Tests for Developmental and Epileptic Encephalopathy 19

Genetic tests related to Developmental and Epileptic Encephalopathy 19:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 19 29 GABRA1

Anatomical Context for Developmental and Epileptic Encephalopathy 19

Publications for Developmental and Epileptic Encephalopathy 19

Articles related to Developmental and Epileptic Encephalopathy 19:

# Title Authors PMID Year
1
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. 57 6
32047208 2020
2
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6 57
24623842 2014
3
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. 61
28864462 2017

Variations for Developmental and Epileptic Encephalopathy 19

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 19:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA1 NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) SNV Pathogenic 127073 rs587777307 5:161317951-161317951 5:161890945-161890945
2 GABRA1 NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) SNV Pathogenic 127075 rs587777309 5:161322732-161322732 5:161895726-161895726
3 GABRA1 NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) SNV Pathogenic 217878 rs863225292 5:161322717-161322717 5:161895711-161895711
4 GABRA1 NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) Deletion Pathogenic 242830 rs879253748 5:161324257-161324257 5:161897251-161897251
5 GABRA1 NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) SNV Pathogenic 813796 rs1561584736 5:161317987-161317987 5:161890981-161890981
6 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
7 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
8 GABRA1 NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) SNV Pathogenic 992951 5:161322810-161322810 5:161895804-161895804
9 GABRA1 NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) SNV Likely pathogenic 807607 rs1376907797 5:161300307-161300307 5:161873301-161873301
10 GABRA1 NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) SNV Likely pathogenic 424394 rs775157869 5:161324264-161324264 5:161897258-161897258
11 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Likely pathogenic 265162 rs886039373 5:161309645-161309645 5:161882639-161882639
12 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) SNV Likely pathogenic 205521 rs796052492 5:161317999-161317999 5:161890993-161890993
13 GABRA1 NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) SNV Likely pathogenic 870352 5:161309647-161309647 5:161882641-161882641
14 GABRA1 NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) SNV Likely pathogenic 205525 rs796052496 5:161322699-161322699 5:161895693-161895693
15 GABRA1 NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) SNV Likely pathogenic 982025 5:161317963-161317963 5:161890957-161890957
16 GABRA1 NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) SNV Likely pathogenic 402327 rs1060499553 5:161317989-161317989 5:161890983-161890983
17 GABRA1 NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) SNV Uncertain significance 626110 rs866861998 5:161281169-161281169 5:161854163-161854163
18 GABRA1 NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser) SNV Uncertain significance 870210 5:161300273-161300273 5:161873267-161873267
19 GABRA1 NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) SNV Uncertain significance 224145 rs769743354 5:161281183-161281183 5:161854177-161854177
20 GABRA1 NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) SNV Uncertain significance 930252 5:161324165-161324165 5:161897159-161897159
21 GABRA1 NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu) SNV Uncertain significance 800850 rs1581221893 5:161324325-161324325 5:161897319-161897319

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 19:

73
# Symbol AA change Variation ID SNP ID
1 GABRA1 p.Arg112Gln VAR_071809 rs587777308
2 GABRA1 p.Gly251Ser VAR_071811 rs587777307
3 GABRA1 p.Lys306Thr VAR_071812 rs587777309
4 GABRA1 p.Leu146Met VAR_078222

Expression for Developmental and Epileptic Encephalopathy 19

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 19.

Pathways for Developmental and Epileptic Encephalopathy 19

GO Terms for Developmental and Epileptic Encephalopathy 19

Sources for Developmental and Epileptic Encephalopathy 19

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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