EIEE56
MCID: EPL211
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 56 (EIEE56)

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, 56

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 56:

Name: Epileptic Encephalopathy, Early Infantile, 56 56 73 29 6
Eiee56 56 73
Early Infantile Epileptic Encephalopathy 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

31
epileptic encephalopathy, early infantile, 56:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 56

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 56: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE56 is an autosomal dominant condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 56, is also known as eiee56. An important gene associated with Epileptic Encephalopathy, Early Infantile, 56 is YWHAG (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma). Affiliated tissues include cortex, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has material basis in heterozygous mutation in the YWHAG gene on chromosome 7q11.

OMIM : 56 EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (617665)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 56

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, 56

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 56:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 eeg abnormality 31 HP:0002353
4 scoliosis 31 HP:0002650
5 global developmental delay 31 HP:0001263
6 attention deficit hyperactivity disorder 31 HP:0007018
7 anxiety 31 HP:0000739
8 status epilepticus 31 HP:0002133
9 poor coordination 31 HP:0002370
10 obsessive-compulsive trait 31 HP:0008770
11 broad-based gait 31 HP:0002136

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
ataxia
status epilepticus
poor coordination
wide-based gait
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
obsessive-compulsive traits
attention deficit

Skeletal Spine:
scoliosis

Clinical features from OMIM:

617665

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 56

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 56

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 56

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 56:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 56 29 YWHAG

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 56

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 56:

40
Cortex

Publications for Epileptic Encephalopathy, Early Infantile, 56

Articles related to Epileptic Encephalopathy, Early Infantile, 56:

# Title Authors PMID Year
1
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 56 6
28777935 2017
2
De novo mutations in epileptic encephalopathies. 56 6
23934111 2013
3
Prevalence and architecture of de novo mutations in developmental disorders. 56
28135719 2017
4
Overexpression of the 14-3-3gamma protein in embryonic mice results in neuronal migration delay in the developing cerebral cortex. 56
27288018 2016
5
Ablation of the 14-3-3gamma Protein Results in Neuronal Migration Delay and Morphological Defects in the Developing Cerebral Cortex. 56
26297819 2016
6
Synaptic, transcriptional and chromatin genes disrupted in autism. 56
25363760 2014
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
8
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 56

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 56:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YWHAG NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)SNV Likely pathogenic 438804 rs1554616628 7:75959244-75959244 7:76329927-76329927
2 YWHAG NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu)SNV Likely pathogenic 438806 rs1554616630 7:75959251-75959251 7:76329934-76329934
3 YWHAG NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)SNV Likely pathogenic 549482 rs1554616627 7:75959240-75959240 7:76329923-76329923
4 YWHAG NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln)SNV Uncertain significance 549487 rs1554616652 7:75959490-75959490 7:76330173-76330173
5 YWHAG NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala)SNV Uncertain significance 438805 rs1554618767 7:75988082-75988082 7:76358765-76358765

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 56:

73
# Symbol AA change Variation ID SNP ID
1 YWHAG p.Asp129Glu VAR_080226 rs155461663
2 YWHAG p.Arg132Cys VAR_080227 rs155461662

Expression for Epileptic Encephalopathy, Early Infantile, 56

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 56.

Pathways for Epileptic Encephalopathy, Early Infantile, 56

GO Terms for Epileptic Encephalopathy, Early Infantile, 56

Sources for Epileptic Encephalopathy, Early Infantile, 56

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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