EIEE79
MCID: EPL245
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 79 (EIEE79)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 79

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 79:

Name: Epileptic Encephalopathy, Early Infantile, 79 56 73 6
Eiee79 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated august 2019)
seizures, refractory or difficult to control


Classifications:



External Ids:

OMIM 56 618559
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 CN262226

Summaries for Epileptic Encephalopathy, Early Infantile, 79

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 79: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 79, is also known as eiee79. An important gene associated with Epileptic Encephalopathy, Early Infantile, 79 is GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5). Affiliated tissues include brain.

OMIM : 56 Early infantile epileptic encephalopathy-79 (EIEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618559)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 79

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 79

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
absent speech
status epilepticus
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 patient)

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM:

618559

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 79

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 79

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 79

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 79

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 79:

40
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 79

Articles related to Epileptic Encephalopathy, Early Infantile, 79:

# Title Authors PMID Year
1
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 6 56
31056671 2019
2
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. 6 56
29961870 2018
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 79

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 79:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA5 NM_000810.4(GABRA5):c.880G>C (p.Val294Leu)SNV Pathogenic 689391 15:27188364-27188364 15:26943217-26943217
2 GABRA5 NM_000810.4(GABRA5):c.880G>T (p.Val294Phe)SNV Pathogenic 689392 15:27188364-27188364 15:26943217-26943217
3 GABRA5 NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe)SNV Pathogenic 689393 15:27193229-27193229 15:26948082-26948082
4 GABRA5 NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)SNV Likely pathogenic 801399 15:27188386-27188386 15:26943239-26943239

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 79:

73
# Symbol AA change Variation ID SNP ID
1 GABRA5 p.Val294Phe VAR_083201
2 GABRA5 p.Val294Leu VAR_083202
3 GABRA5 p.Ser413Phe VAR_083203

Expression for Epileptic Encephalopathy, Early Infantile, 79

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 79.

Pathways for Epileptic Encephalopathy, Early Infantile, 79

GO Terms for Epileptic Encephalopathy, Early Infantile, 79

Sources for Epileptic Encephalopathy, Early Infantile, 79

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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