EIEE19
MCID: EPL126
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 19 (EIEE19)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 29 6 73
Eiee19 57 75
Encephalopathy, Epileptic, Early Infantile, Type 19 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 19:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 19

UniProtKB/Swiss-Prot : 75 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 absence seizures and myoclonic 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

Description from OMIM: 615744

Related Diseases for Epileptic Encephalopathy, Early Infantile, 19

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 19

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
absence seizures
febrile seizures
status epilepticus
atonic seizures
more

Clinical features from OMIM:

615744

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 absence seizures 32 HP:0002121
4 febrile seizures 32 HP:0002373
5 status epilepticus 32 HP:0002133
6 atonic seizures 32 HP:0010819
7 epileptic encephalopathy 32 HP:0200134
8 hemiclonic seizures 32 HP:0006813

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


absence seizures, myoclonic 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 29 GABRA1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 19

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

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 19

Variations for Epileptic Encephalopathy, Early Infantile, 19

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

75
# 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 20)
# 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

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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46 MGI
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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