MCID: EPL180
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 41

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 75 29 6
Eiee41 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first weeks of life


HPO:

32
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 : 75 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 microcephaly and seizures

Description from OMIM: 617105

Related Diseases for Epileptic Encephalopathy, Early Infantile, 41

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 41

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
irritability
lethargy
epileptic encephalopathy
mental retardation, profound
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 seizures 32 HP:0001250
3 spasticity 32 occasional (7.5%) HP:0001257
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 flexion contracture 32 HP:0001371
7 cerebral atrophy 32 HP:0002059
8 hypoplasia of the corpus callosum 32 HP:0002079
9 intellectual disability, profound 32 HP:0002187
10 developmental regression 32 occasional (7.5%) HP:0002376
11 hypsarrhythmia 32 occasional (7.5%) HP:0002521
12 kyphoscoliosis 32 HP:0002751
13 epileptic encephalopathy 32 HP:0200134

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

Variations for Epileptic Encephalopathy, Early Infantile, 41

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

75
# 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 Pathogenic rs781379291 GRCh38 Chromosome 11, 35292512: 35292512
8 SLC1A2 NM_004171.3(SLC1A2): c.866C> G (p.Pro289Arg) single nucleotide variant 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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