EIEE41
MCID: EPL180
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 41 (EIEE41)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 41

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 41:

Name: Epileptic Encephalopathy, Early Infantile, 41 58 76 30 6
Eiee41 58 76
Early Infantile Epileptic Encephalopathy 41 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first weeks of life


HPO:

33
epileptic encephalopathy, early infantile, 41:
Onset and clinical course neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 41

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 41: 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. EIEE41 inheritance is autosomal dominant.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 41, is also known as eiee41. An important gene associated with Epileptic Encephalopathy, Early Infantile, 41 is SLC1A2 (Solute Carrier Family 1 Member 2). Affiliated tissues include liver and eye, and related phenotypes are spasticity and developmental regression

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.

Description from OMIM: 617105

Related Diseases for Epileptic Encephalopathy, Early Infantile, 41

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 41

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 41:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 occasional (7.5%) HP:0001257
2 developmental regression 33 occasional (7.5%) HP:0002376
3 microcephaly 33 occasional (7.5%) HP:0000252
4 hypsarrhythmia 33 occasional (7.5%) HP:0002521
5 seizures 33 HP:0001250
6 global developmental delay 33 HP:0001263
7 flexion contracture 33 HP:0001371
8 irritability 33 HP:0000737
9 absent speech 33 HP:0001344
10 inability to walk 33 HP:0002540
11 kyphoscoliosis 33 HP:0002751
12 epileptic encephalopathy 33 HP:0200134
13 intellectual disability, profound 33 HP:0002187
14 lethargy 33 HP:0001254
15 generalized hypotonia 33 HP:0001290
16 hypoplasia of the corpus callosum 33 HP:0002079
17 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
irritability
epileptic encephalopathy
lethargy
abnormal eeg
more
Skeletal Spine:
kyphoscoliosis

Skeletal:
contractures

Growth Other:
poor overall growth (1 patient)

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Eyes:
inability to fix or follow

Clinical features from OMIM:

617105

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 41

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 41

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 41

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 41:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 41 30 SLC1A2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 41

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 41:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 41

Articles related to Epileptic Encephalopathy, Early Infantile, 41:

# Title Authors Year
1
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. ( 28777935 )
2017
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. ( 27476654 )
2016
3
De novo mutations in epileptic encephalopathies. ( 23934111 )
2013

Variations for Epileptic Encephalopathy, Early Infantile, 41

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 41:

76
# Symbol AA change Variation ID SNP ID
1 SLC1A2 p.Gly82Arg VAR_077083 rs886037942
2 SLC1A2 p.Leu85Pro VAR_077084 rs886037943
3 SLC1A2 p.Pro289Arg VAR_080229

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 41:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC1A2 NM_004171.3(SLC1A2): c.244G> C (p.Gly82Arg) single nucleotide variant Pathogenic rs886037942 GRCh38 Chromosome 11, 35315089: 35315089
2 SLC1A2 NM_004171.3(SLC1A2): c.244G> C (p.Gly82Arg) single nucleotide variant Pathogenic rs886037942 GRCh37 Chromosome 11, 35336636: 35336636
3 SLC1A2 NM_004171.3(SLC1A2): c.254T> C (p.Leu85Pro) single nucleotide variant Pathogenic rs886037943 GRCh37 Chromosome 11, 35336626: 35336626
4 SLC1A2 NM_004171.3(SLC1A2): c.254T> C (p.Leu85Pro) single nucleotide variant Pathogenic rs886037943 GRCh38 Chromosome 11, 35315079: 35315079
5 SLC1A2 NM_004171.3(SLC1A2): c.244G> A (p.Gly82Arg) single nucleotide variant Pathogenic rs886037942 GRCh37 Chromosome 11, 35336636: 35336636
6 SLC1A2 NM_004171.3(SLC1A2): c.244G> A (p.Gly82Arg) single nucleotide variant Pathogenic rs886037942 GRCh38 Chromosome 11, 35315089: 35315089
7 SLC1A2 NM_004171.3(SLC1A2): c.866C> G (p.Pro289Arg) single nucleotide variant Likely pathogenic rs781379291 GRCh38 Chromosome 11, 35292512: 35292512
8 SLC1A2 NM_004171.3(SLC1A2): c.866C> G (p.Pro289Arg) single nucleotide variant Likely pathogenic rs781379291 GRCh37 Chromosome 11, 35314059: 35314059

Expression for Epileptic Encephalopathy, Early Infantile, 41

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 41.

Pathways for Epileptic Encephalopathy, Early Infantile, 41

GO Terms for Epileptic Encephalopathy, Early Infantile, 41

Sources for Epileptic Encephalopathy, Early Infantile, 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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