DEE41
MCID: DVL066
MIFTS: 25

Developmental and Epileptic Encephalopathy 41 (DEE41)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 41

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 41:

Name: Developmental and Epileptic Encephalopathy 41 57 12
Epileptic Encephalopathy, Early Infantile, 41 57 72 29 6
Eiee41 57 72
Dee41 57 12
Epileptic Encephalopathy, Early Infantile, 41; Eiee41 57
Early Infantile Epileptic Encephalopathy 41 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first days or weeks of life


HPO:

31
developmental and epileptic encephalopathy 41:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 41

OMIM® : 57 Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the EPI4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617105) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 41, is also known as epileptic encephalopathy, early infantile, 41. An important gene associated with Developmental and Epileptic Encephalopathy 41 is SLC1A2 (Solute Carrier Family 1 Member 2). Related phenotypes are spasticity and developmental regression

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has material basis in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 41

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 41

Human phenotypes related to Developmental and Epileptic Encephalopathy 41:

31 (showing 18, show less)
# 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 global developmental delay 31 HP:0001263
6 flexion contracture 31 HP:0001371
7 absent speech 31 HP:0001344
8 irritability 31 HP:0000737
9 kyphoscoliosis 31 HP:0002751
10 lethargy 31 HP:0001254
11 hypoplasia of the corpus callosum 31 HP:0002079
12 feeding difficulties 31 HP:0011968
13 intellectual disability, profound 31 HP:0002187
14 cerebral atrophy 31 HP:0002059
15 generalized hypotonia 31 HP:0001290
16 inability to walk 31 HP:0002540
17 epileptic encephalopathy 31 HP:0200134
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
irritability
lethargy
epileptic encephalopathy
hypotonia
more
Skeletal Spine:
kyphoscoliosis

Growth Other:
poor overall growth

Head And Neck Eyes:
inability to fix or follow

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Skeletal:
contractures

Clinical features from OMIM®:

617105 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 41

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 41

Genetic Tests for Developmental and Epileptic Encephalopathy 41

Genetic tests related to Developmental and Epileptic Encephalopathy 41:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 41 29 SLC1A2

Anatomical Context for Developmental and Epileptic Encephalopathy 41

Publications for Developmental and Epileptic Encephalopathy 41

Articles related to Developmental and Epileptic Encephalopathy 41:

(showing 5, show less)
# Title Authors PMID Year
1
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 6 57
28777935 2017
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 57 6
27476654 2016
3
De novo mutations in epileptic encephalopathies. 57 6
23934111 2013
4
Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes. 6
24214974 2013
5
A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. 6
23107647 2012

Variations for Developmental and Epileptic Encephalopathy 41

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 41:

6 (showing 9, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC1A2 NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) SNV Pathogenic 254265 rs886037942 GRCh37: 11:35336636-35336636
GRCh38: 11:35315089-35315089
2 SLC1A2 NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) SNV Pathogenic 254266 rs886037943 GRCh37: 11:35336626-35336626
GRCh38: 11:35315079-35315079
3 SLC1A2 NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) SNV Pathogenic 438736 rs886037942 GRCh37: 11:35336636-35336636
GRCh38: 11:35315089-35315089
4 SLC1A2 NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) SNV Likely pathogenic 438737 rs781379291 GRCh37: 11:35314059-35314059
GRCh38: 11:35292512-35292512
5 SLC1A2 NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) SNV Uncertain significance 1034056 GRCh37: 11:35333751-35333751
GRCh38: 11:35312204-35312204
6 SLC1A2 NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) SNV Uncertain significance 1034057 GRCh37: 11:35327744-35327744
GRCh38: 11:35306197-35306197
7 SLC1A2 NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp) SNV Uncertain significance 930624 GRCh37: 11:35327742-35327742
GRCh38: 11:35306195-35306195
8 SLC1A2 NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val) SNV Uncertain significance 931535 GRCh37: 11:35313879-35313879
GRCh38: 11:35292332-35292332
9 SLC1A2 NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val) SNV Uncertain significance 979192 GRCh37: 11:35338942-35338942
GRCh38: 11:35317395-35317395

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 41:

72 (showing 3, show less)
# 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 rs781379291

Expression for Developmental and Epileptic Encephalopathy 41

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 41.

Pathways for Developmental and Epileptic Encephalopathy 41

GO Terms for Developmental and Epileptic Encephalopathy 41

Sources for Developmental and Epileptic Encephalopathy 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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