EIEE41
MCID: EPL180
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 41 (EIEE41)

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, 41

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

Name: Epileptic Encephalopathy, Early Infantile, 41 56 73 29 6
Eiee41 56 73
Early Infantile Epileptic Encephalopathy 41 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first weeks of life


HPO:

31
epileptic encephalopathy, early infantile, 41:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 41

UniProtKB/Swiss-Prot : 73 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 eye, bone and liver, 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.

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
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 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 41

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 developmental regression 31 occasional (7.5%) HP:0002376
3 microcephaly 31 occasional (7.5%) HP:0000252
4 hypsarrhythmia 31 occasional (7.5%) HP:0002521
5 seizures 31 HP:0001250
6 global developmental delay 31 HP:0001263
7 feeding difficulties 31 HP:0011968
8 flexion contracture 31 HP:0001371
9 generalized hypotonia 31 HP:0001290
10 irritability 31 HP:0000737
11 absent speech 31 HP:0001344
12 inability to walk 31 HP:0002540
13 kyphoscoliosis 31 HP:0002751
14 epileptic encephalopathy 31 HP:0200134
15 lethargy 31 HP:0001254
16 hypoplasia of the corpus callosum 31 HP:0002079
17 cerebral atrophy 31 HP:0002059
18 intellectual disability, profound 31 HP:0002187

Symptoms via clinical synopsis from OMIM:

56
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

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

40
Eye, Bone, Liver

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. 56 6
28777935 2017
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 56 6
27476654 2016
3
De novo mutations in epileptic encephalopathies. 56 6
23934111 2013
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, 41

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC1A2 NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg)SNV Pathogenic 254265 rs886037942 11:35336636-35336636 11:35315089-35315089
2 SLC1A2 NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro)SNV Pathogenic 254266 rs886037943 11:35336626-35336626 11:35315079-35315079
3 SLC1A2 NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg)SNV Pathogenic 438736 rs886037942 11:35336636-35336636 11:35315089-35315089
4 SLC1A2 NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)SNV Likely pathogenic 438737 rs781379291 11:35314059-35314059 11:35292512-35292512

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

73
# 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 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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