EIEE38
MCID: EPL171
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 38 (EIEE38)

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, 38

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

Name: Epileptic Encephalopathy, Early Infantile, 38 56 73 29 6
Early Infantile Epileptic Encephalopathy 38 12 15
Eiee38 56 73

Characteristics:

OMIM:

56
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:

31
epileptic encephalopathy, early infantile, 38:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080417
OMIM 56 617020
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 38

UniProtKB/Swiss-Prot : 73 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 early infantile epileptic encephalopathy 38. 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 global developmental delay

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
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, 38

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 occasional (7.5%) HP:0000556
2 global developmental delay 31 HP:0001263
3 hypertonia 31 HP:0001276
4 ataxia 31 HP:0001251
5 dystonia 31 HP:0001332
6 status epilepticus 31 HP:0002133
7 intellectual disability, profound 31 HP:0002187
8 generalized hypotonia 31 HP:0001290
9 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
dystonia
status epilepticus
intellectual disability, profound
epileptic encephalopathy
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:

40
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. 56 6
27270415 2016
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 56 6
25558065 2015
3
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. 56 61
32165008 2020
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, 38

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARV1 NM_022786.3(ARV1):c.294+1G>ASNV Pathogenic 224496 rs150619347 1:231124186-231124186 1:230988440-230988440
2 ARV1 NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)SNV Pathogenic/Likely pathogenic 183341 rs730882241 1:231131622-231131622 1:230995876-230995876
3 ARV1 NM_022786.3(ARV1):c.674-2A>TSNV Uncertain significance 520804 rs1192627743 1:231132865-231132865 1:230997119-230997119

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

73
# 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 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
Content
Loading form....