MCID: EPL127
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 21

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, 21

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 21:

Name: Epileptic Encephalopathy, Early Infantile, 21 57 75 73
Early Infantile Epileptic Encephalopathy 21 29 6
Eiee21 57 75
Encephalopathy, Epileptic, Early Infantile, Type 21 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one consanguineous family has been reported (last curated june 2014)


HPO:

32
epileptic encephalopathy, early infantile, 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615833
MeSH 44 D013036
UMLS 73 C4014430

Summaries for Epileptic Encephalopathy, Early Infantile, 21

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 21: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 21, is also known as early infantile epileptic encephalopathy 21. An important gene associated with Epileptic Encephalopathy, Early Infantile, 21 is NECAP1 (NECAP Endocytosis Associated 1). Affiliated tissues include brain, and related phenotypes are global developmental delay and feeding difficulties

Description from OMIM: 615833

Related Diseases for Epileptic Encephalopathy, Early Infantile, 21

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, 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
lack of head control

Muscle Soft Tissue:
hypotonia

Prenatal Manifestations Movement:
decreased fetal movements

Abdomen Gastrointestinal:
poor feeding

Neurologic Central Nervous System:
epileptic encephalopathy
delayed psychomotor development, profound
intractable seizures
axial hypotonia
lack of head control
more

Clinical features from OMIM:

615833

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 21:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 feeding difficulties 32 HP:0011968
3 decreased fetal movement 32 HP:0001558
4 generalized hypotonia 32 HP:0001290
5 epileptic encephalopathy 32 HP:0200134
6 muscular hypotonia of the trunk 32 HP:0008936

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 21

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 21

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 21

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 21:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 21 29 NECAP1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 21

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 21:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 21

Variations for Epileptic Encephalopathy, Early Infantile, 21

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 21:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 NECAP1 NM_015509.3(NECAP1): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777420 GRCh37 Chromosome 12, 8242578: 8242578
2 NECAP1 NM_015509.3(NECAP1): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777420 GRCh38 Chromosome 12, 8089982: 8089982
3 NECAP1 NM_015509.3(NECAP1): c.581A> G (p.Lys194Arg) single nucleotide variant Uncertain significance rs765855460 GRCh37 Chromosome 12, 8245556: 8245556
4 NECAP1 NM_015509.3(NECAP1): c.581A> G (p.Lys194Arg) single nucleotide variant Uncertain significance rs765855460 GRCh38 Chromosome 12, 8092960: 8092960
5 NECAP1 NM_015509.3(NECAP1): c.670G> A (p.Asp224Asn) single nucleotide variant Benign rs2231752 GRCh37 Chromosome 12, 8245645: 8245645
6 NECAP1 NM_015509.3(NECAP1): c.670G> A (p.Asp224Asn) single nucleotide variant Benign rs2231752 GRCh38 Chromosome 12, 8093049: 8093049
7 NECAP1 NM_015509.3(NECAP1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs374365372 GRCh38 Chromosome 12, 8090266: 8090266
8 NECAP1 NM_015509.3(NECAP1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs374365372 GRCh37 Chromosome 12, 8242862: 8242862
9 NECAP1 NM_015509.3(NECAP1): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs137964265 GRCh38 Chromosome 12, 8090249: 8090249
10 NECAP1 NM_015509.3(NECAP1): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs137964265 GRCh37 Chromosome 12, 8242845: 8242845
11 NECAP1 NM_015509.3(NECAP1): c.791A> G (p.Asn264Ser) single nucleotide variant Uncertain significance rs145154841 GRCh38 Chromosome 12, 8096053: 8096053
12 NECAP1 NM_015509.3(NECAP1): c.791A> G (p.Asn264Ser) single nucleotide variant Uncertain significance rs145154841 GRCh37 Chromosome 12, 8248649: 8248649
13 NECAP1 NM_015509.3(NECAP1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8234894: 8234894
14 NECAP1 NM_015509.3(NECAP1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8082298: 8082298
15 NECAP1 NM_015509.3(NECAP1): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs149036367 GRCh37 Chromosome 12, 8242846: 8242846
16 NECAP1 NM_015509.3(NECAP1): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs149036367 GRCh38 Chromosome 12, 8090250: 8090250
17 NECAP1 NM_015509.3(NECAP1): c.383+3G> T single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8091853: 8091853
18 NECAP1 NM_015509.3(NECAP1): c.383+3G> T single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8244449: 8244449
19 NECAP1 NM_015509.3(NECAP1): c.715A> T (p.Thr239Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8095639: 8095639
20 NECAP1 NM_015509.3(NECAP1): c.715A> T (p.Thr239Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8248235: 8248235
21 NECAP1 NM_015509.3(NECAP1): c.134G> C (p.Gly45Ala) single nucleotide variant Uncertain significance rs973563199 GRCh37 Chromosome 12, 8242570: 8242570
22 NECAP1 NM_015509.3(NECAP1): c.134G> C (p.Gly45Ala) single nucleotide variant Uncertain significance rs973563199 GRCh38 Chromosome 12, 8089974: 8089974

Expression for Epileptic Encephalopathy, Early Infantile, 21

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 21.

Pathways for Epileptic Encephalopathy, Early Infantile, 21

GO Terms for Epileptic Encephalopathy, Early Infantile, 21

Sources for Epileptic Encephalopathy, Early Infantile, 21

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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