EIEE63
MCID: EPL222
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 63 (EIEE63)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 63

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 63:

Name: Epileptic Encephalopathy, Early Infantile, 63 58 76 6
Eiee63 58 76
Early Infantile Epileptic Encephalopathy 63 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 63

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 63: 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. EIEE63 is an autosomal recessive disease with onset in infancy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 63, is also known as eiee63. An important gene associated with Epileptic Encephalopathy, Early Infantile, 63 is CPLX1 (Complexin 1). Related phenotypes are cerebral cortical atrophy and hypertelorism

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.

Description from OMIM: 617976

Related Diseases for Epileptic Encephalopathy, Early Infantile, 63

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 63

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 63:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 33 very rare (1%) HP:0002120
2 hypertelorism 33 HP:0000316
3 intellectual disability 33 HP:0001249
4 global developmental delay 33 HP:0001263
5 abnormal facial shape 33 HP:0001999
6 long philtrum 33 HP:0000343
7 generalized myoclonic seizures 33 HP:0002123
8 absent speech 33 HP:0001344
9 inability to walk 33 HP:0002540
10 midface retrusion 33 HP:0011800
11 epileptic encephalopathy 33 HP:0200134
12 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
bowed eyebrows

Head And Neck Face:
long philtrum
flat midface
dysmorphic facial features

Head And Neck Mouth:
thin upper lip

Abdomen Gastrointestinal:
poor feeding

Neurologic Central Nervous System:
intellectual disability
inability to walk
epileptic encephalopathy
seizures, refractory
myoclonic seizures
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes

Clinical features from OMIM:

617976

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 63

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 63

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 63

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 63

Publications for Epileptic Encephalopathy, Early Infantile, 63

Variations for Epileptic Encephalopathy, Early Infantile, 63

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 63:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CPLX1 NM_006651.4(CPLX1): c.322G> T (p.Glu108Ter) single nucleotide variant Likely pathogenic rs1060499735 GRCh37 Chromosome 4, 780372: 780372
2 CPLX1 NM_006651.4(CPLX1): c.322G> T (p.Glu108Ter) single nucleotide variant Likely pathogenic rs1060499735 GRCh38 Chromosome 4, 786584: 786584
3 CPLX1 NM_006651.4(CPLX1): c.315C> A (p.Cys105Ter) single nucleotide variant Likely pathogenic rs1553851860 GRCh38 Chromosome 4, 786591: 786591
4 CPLX1 NM_006651.4(CPLX1): c.315C> A (p.Cys105Ter) single nucleotide variant Likely pathogenic rs1553851860 GRCh37 Chromosome 4, 780379: 780379
5 CPLX1 NM_006651.4(CPLX1): c.382C> A (p.Leu128Met) single nucleotide variant Uncertain significance rs371709824 GRCh38 Chromosome 4, 786524: 786524
6 CPLX1 NM_006651.4(CPLX1): c.382C> A (p.Leu128Met) single nucleotide variant Uncertain significance rs371709824 GRCh37 Chromosome 4, 780312: 780312

Expression for Epileptic Encephalopathy, Early Infantile, 63

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 63.

Pathways for Epileptic Encephalopathy, Early Infantile, 63

GO Terms for Epileptic Encephalopathy, Early Infantile, 63

Sources for Epileptic Encephalopathy, Early Infantile, 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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