EIEE38
MCID: EPL171
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 38 (EIEE38)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 38

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 38:

Name: Epileptic Encephalopathy, Early Infantile, 38 57 74 29 6
Eiee38 57 74
Early Infantile Epileptic Encephalopathy 38 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
severe disorder
some patients may die in early childhood
two unrelated consanguineous families have been reported (last curated july 2016)


HPO:

32
epileptic encephalopathy, early infantile, 38:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080417
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 38

UniProtKB/Swiss-Prot : 74 Epileptic encephalopathy, early infantile, 38: 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. EIEE38 inheritance is autosomal recessive.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 38, is also known as eiee38. An important gene associated with Epileptic Encephalopathy, Early Infantile, 38 is ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator). Affiliated tissues include eye, and related phenotypes are retinal dystrophy and ataxia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous mutation in the ARV1 gene on chromosome 1q42.

More information from OMIM: 617020 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 38

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 38

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 38:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 32 occasional (7.5%) HP:0000556
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 hypertonia 32 HP:0001276
5 generalized hypotonia 32 HP:0001290
6 dystonia 32 HP:0001332
7 epileptic encephalopathy 32 HP:0200134
8 status epilepticus 32 HP:0002133
9 intellectual disability, profound 32 HP:0002187

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dystonia
epileptic encephalopathy
status epilepticus
intellectual disability, profound
more
Head And Neck Eyes:
roving eye movements
poor visual contact
retinal dystrophy (1 patient)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617020

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 38

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 38

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 38

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 38:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 38 29 ARV1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 38

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 38:

41
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 38

Articles related to Epileptic Encephalopathy, Early Infantile, 38:

# Title Authors PMID Year
1
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. 8 71
27270415 2016
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 8 71
25558065 2015
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 38

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 38:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARV1 NM_022786.3(ARV1): c.294+1G> A single nucleotide variant Pathogenic rs150619347 1:231124186-231124186 1:230988440-230988440
2 ARV1 NM_022786.3(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 1:231131622-231131622 1:230995876-230995876
3 ARV1 NM_022786.3(ARV1): c.674-2A> T single nucleotide variant Uncertain significance rs1192627743 1:231132865-231132865 1:230997119-230997119

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 38:

74
# Symbol AA change Variation ID SNP ID
1 ARV1 p.Gly189Arg VAR_077051 rs730882241

Expression for Epileptic Encephalopathy, Early Infantile, 38

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 38.

Pathways for Epileptic Encephalopathy, Early Infantile, 38

GO Terms for Epileptic Encephalopathy, Early Infantile, 38

Sources for Epileptic Encephalopathy, Early Infantile, 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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