MCID: EPL235
MIFTS: 15

Epileptic Encephalopathy, Early Infantile, 71

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 71

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 71:

Name: Epileptic Encephalopathy, Early Infantile, 71 58 6
Eiee71 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in first weeks of life
two unrelated families have been reported (last curated february 2019)


Classifications:



External Ids:

OMIM 58 618328

Summaries for Epileptic Encephalopathy, Early Infantile, 71

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 71, is also known as eiee71. An important gene associated with Epileptic Encephalopathy, Early Infantile, 71 is GLS (Glutaminase). Affiliated tissues include brain.

Description from OMIM: 618328

Related Diseases for Epileptic Encephalopathy, Early Infantile, 71

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 71

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency
respiratory failure

Muscle Soft Tissue:
hypotonia, neonatal, severe

Neurologic Central Nervous System:
epileptic encephalopathy
lack of spontaneous movements
seizures, refractory, early-onset
eeg shows burst-suppression pattern
brain imaging shows simplified gyral structure
more
Laboratory Abnormalities:
newborn guthrie card shows increased glutamine

Clinical features from OMIM:

618328

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 71

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 71

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 71

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 71

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 71:

42
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 71

Variations for Epileptic Encephalopathy, Early Infantile, 71

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 71:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLS NM_001256310.1(GLS): c.695dup (p.Asp232Glufs) duplication Pathogenic GRCh38 Chromosome 2, 190900653: 190900653
2 GLS NM_001256310.1(GLS): c.695dup (p.Asp232Glufs) duplication Pathogenic GRCh37 Chromosome 2, 191765379: 191765379
3 GLS NM_001256310.1(GLS): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 191746051: 191746051
4 GLS NM_001256310.1(GLS): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 190881325: 190881325
5 GLS NM_001256310.1(GLS): c.815G> A (p.Arg272Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 190902026: 190902026
6 GLS NM_001256310.1(GLS): c.815G> A (p.Arg272Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 191766752: 191766752

Expression for Epileptic Encephalopathy, Early Infantile, 71

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 71.

Pathways for Epileptic Encephalopathy, Early Infantile, 71

GO Terms for Epileptic Encephalopathy, Early Infantile, 71

Sources for Epileptic Encephalopathy, Early Infantile, 71

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
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