EIEE41
MCID: EPL180
MIFTS: 22

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 57 74 29 6
Eiee41 57 74
Early Infantile Epileptic Encephalopathy 41 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first weeks of life


HPO:

32
epileptic encephalopathy, early infantile, 41:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080442
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 41

UniProtKB/Swiss-Prot : 74 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). 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.

More information from OMIM: 617105 PS308350

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 41

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 occasional (7.5%) HP:0001257
2 developmental regression 32 occasional (7.5%) HP:0002376
3 microcephaly 32 occasional (7.5%) HP:0000252
4 hypsarrhythmia 32 occasional (7.5%) HP:0002521
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 flexion contracture 32 HP:0001371
8 generalized hypotonia 32 HP:0001290
9 feeding difficulties 32 HP:0011968
10 irritability 32 HP:0000737
11 absent speech 32 HP:0001344
12 inability to walk 32 HP:0002540
13 kyphoscoliosis 32 HP:0002751
14 epileptic encephalopathy 32 HP:0200134
15 intellectual disability, profound 32 HP:0002187
16 lethargy 32 HP:0001254
17 hypoplasia of the corpus callosum 32 HP:0002079
18 cerebral atrophy 32 HP:0002059

Symptoms via clinical synopsis from OMIM:

57
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 29 SLC1A2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 41

Publications for Epileptic Encephalopathy, Early Infantile, 41

Articles related to Epileptic Encephalopathy, Early Infantile, 41:

# Title Authors PMID Year
1
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 8 71
28777935 2017
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 8 71
27476654 2016
3
De novo mutations in epileptic encephalopathies. 8 71
23934111 2013
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 41

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

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

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

74
# 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

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
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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