EIEE19
MCID: EPL126
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 19 (EIEE19)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 19

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 19:

Name: Epileptic Encephalopathy, Early Infantile, 19 58 76 30 6 74
Eiee19 58 76
Encephalopathy, Epileptic, Early Infantile, Type 19 41
Early Infantile Epileptic Encephalopathy 19 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 19:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 19

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 19, is also known as eiee19, and has symptoms including myoclonic seizures and absence seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 19 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRA1 gene on chromosome 5q34.

Description from OMIM: 615744

Related Diseases for Epileptic Encephalopathy, Early Infantile, 19

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 19

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 19:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 global developmental delay 33 HP:0001263
3 epileptic encephalopathy 33 HP:0200134
4 absence seizure 33 HP:0002121
5 febrile seizures 33 HP:0002373
6 status epilepticus 33 HP:0002133
7 atonic seizures 33 HP:0010819
8 hemiclonic seizures 33 HP:0006813

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
febrile seizures
status epilepticus
atonic seizures
more

Clinical features from OMIM:

615744

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 19:


myoclonic seizures, absence seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 19

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 19

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 19

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 19:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 19 30 GABRA1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 19

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 19:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 19

Articles related to Epileptic Encephalopathy, Early Infantile, 19:

# Title Authors Year
1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. ( 24623842 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 19

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 19:

76
# 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

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 19:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRA1 NM_000806.5(GABRA1): c.751G> A (p.Gly251Ser) single nucleotide variant Pathogenic rs587777307 GRCh38 Chromosome 5, 161890945: 161890945
2 GABRA1 NM_000806.5(GABRA1): c.751G> A (p.Gly251Ser) single nucleotide variant Pathogenic rs587777307 GRCh37 Chromosome 5, 161317951: 161317951
3 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh38 Chromosome 5, 161873196: 161873196
4 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh37 Chromosome 5, 161300202: 161300202
5 GABRA1 NM_000806.5(GABRA1): c.917A> C (p.Lys306Thr) single nucleotide variant Pathogenic rs587777309 GRCh38 Chromosome 5, 161895726: 161895726
6 GABRA1 NM_000806.5(GABRA1): c.917A> C (p.Lys306Thr) single nucleotide variant Pathogenic rs587777309 GRCh37 Chromosome 5, 161322732: 161322732
7 GABRA1 NM_000806.5(GABRA1): c.640C> A (p.Arg214Ser) single nucleotide variant Likely pathogenic rs727503940 GRCh37 Chromosome 5, 161309644: 161309644
8 GABRA1 NM_000806.5(GABRA1): c.640C> A (p.Arg214Ser) single nucleotide variant Likely pathogenic rs727503940 GRCh38 Chromosome 5, 161882638: 161882638
9 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Likely pathogenic rs796052492 GRCh38 Chromosome 5, 161890993: 161890993
10 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Likely pathogenic rs796052492 GRCh37 Chromosome 5, 161317999: 161317999
11 GABRA1 NM_000806.5(GABRA1): c.902G> A (p.Arg301Lys) single nucleotide variant Pathogenic rs863225292 GRCh38 Chromosome 5, 161895711: 161895711
12 GABRA1 NM_000806.5(GABRA1): c.902G> A (p.Arg301Lys) single nucleotide variant Pathogenic rs863225292 GRCh37 Chromosome 5, 161322717: 161322717
13 GABRA1 NM_000806.5(GABRA1): c.94C> T (p.Gln32Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs769743354 GRCh37 Chromosome 5, 161281183: 161281183
14 GABRA1 NM_000806.5(GABRA1): c.94C> T (p.Gln32Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs769743354 GRCh38 Chromosome 5, 161854177: 161854177
15 GABRA1 NM_000806.5(GABRA1): c.1200delC (p.Lys401Serfs) deletion Pathogenic rs879253748 GRCh38 Chromosome 5, 161897251: 161897251
16 GABRA1 NM_000806.5(GABRA1): c.1200delC (p.Lys401Serfs) deletion Pathogenic rs879253748 GRCh37 Chromosome 5, 161324257: 161324257
17 GABRA1 NM_000806.5(GABRA1): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic/Likely pathogenic rs886039373 GRCh37 Chromosome 5, 161309645: 161309645
18 GABRA1 NM_000806.5(GABRA1): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic/Likely pathogenic rs886039373 GRCh38 Chromosome 5, 161882639: 161882639
19 GABRA1 NM_000806.5(GABRA1): c.789G> A (p.Met263Ile) single nucleotide variant Likely pathogenic rs1060499553 GRCh38 Chromosome 5, 161890983: 161890983
20 GABRA1 NM_000806.5(GABRA1): c.789G> A (p.Met263Ile) single nucleotide variant Likely pathogenic rs1060499553 GRCh37 Chromosome 5, 161317989: 161317989
21 GABRA1 NM_000806.5(GABRA1): c.80G> A (p.Gly27Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161281169: 161281169
22 GABRA1 NM_000806.5(GABRA1): c.80G> A (p.Gly27Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 161854163: 161854163

Expression for Epileptic Encephalopathy, Early Infantile, 19

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 19.

Pathways for Epileptic Encephalopathy, Early Infantile, 19

GO Terms for Epileptic Encephalopathy, Early Infantile, 19

Sources for Epileptic Encephalopathy, Early Infantile, 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....