EIEE78
MCID: EPL244
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 78 (EIEE78)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 78

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 78:

Name: Epileptic Encephalopathy, Early Infantile, 78 56 73 6
Eiee78 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
seizures are intractable (in most patients)
one family with an attenuated disease course has been reported (last curated august 2019)


Classifications:



External Ids:

OMIM 56 618557
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 CN262228

Summaries for Epileptic Encephalopathy, Early Infantile, 78

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 78: 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. EIEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 78, is also known as eiee78. An important gene associated with Epileptic Encephalopathy, Early Infantile, 78 is GABRA2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2). Affiliated tissues include eye and brain.

OMIM : 56 Early infantile epileptic encephalopathy-78 (EIEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by Butler et al., 2018). One family with an attenuated disease course has been reported (Maljevic et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618557)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 78

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 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 78

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
inability to walk
epileptic encephalopathy
more
Muscle Soft Tissue:
hypotonia, axial
hypertonia, limb

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Eyes:
poor eye contact
poor visual fixation
cortical visual impairment (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM:

618557

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 78

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 78

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 78

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 78

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 78:

40
Eye, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 78

Articles related to Epileptic Encephalopathy, Early Infantile, 78:

# Title Authors PMID Year
1
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. 6 56
31032849 2019
2
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. 6 56
29961870 2018
3
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. 6 56
29422393 2018
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 78

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 78:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA2 NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys)SNV Pathogenic 689387 4:46264127-46264127 4:46262110-46262110
2 GABRA2 NM_000807.4(GABRA2):c.871C>G (p.Leu291Val)SNV Pathogenic 689388 4:46264131-46264131 4:46262114-46262114
3 GABRA2 NM_000807.4(GABRA2):c.788T>C (p.Met263Thr)SNV Pathogenic 689389 4:46305545-46305545 4:46303528-46303528
4 GABRA2 NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu)SNV Pathogenic 689390 4:46264027-46264027 4:46262010-46262010
5 GABRA2 NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)SNV Conflicting interpretations of pathogenicity 617630 rs1560442716 4:46263999-46263999 4:46261982-46261982

Expression for Epileptic Encephalopathy, Early Infantile, 78

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 78.

Pathways for Epileptic Encephalopathy, Early Infantile, 78

GO Terms for Epileptic Encephalopathy, Early Infantile, 78

Sources for Epileptic Encephalopathy, Early Infantile, 78

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
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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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