MCID: EPL222
MIFTS: 15

Epileptic Encephalopathy, Early Infantile, 63

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, 63

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

Name: Epileptic Encephalopathy, Early Infantile, 63 57 6
Eiee63 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 57 617976

Summaries for Epileptic Encephalopathy, Early Infantile, 63

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).

Description from OMIM: 617976

Related Diseases for Epileptic Encephalopathy, Early Infantile, 63

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, 63

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
dysmorphic facial features
flat midface
long philtrum

Head And Neck Mouth:
thin upper lip

Skeletal Feet:
overlapping toes

Neurologic Central Nervous System:
epileptic encephalopathy
seizures, refractory
various seizure types
myoclonic seizures
migrating seizures
more
Head And Neck Eyes:
hypertelorism
bowed eyebrows

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
hypotonia


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_006651.3(CPLX1): c.322G> T (p.Glu108Ter) single nucleotide variant Likely pathogenic rs1060499735 GRCh37 Chromosome 4, 780372: 780372
2 CPLX1 NM_006651.3(CPLX1): c.322G> T (p.Glu108Ter) single nucleotide variant Likely pathogenic rs1060499735 GRCh38 Chromosome 4, 786584: 786584
3 CPLX1 NM_006651.3(CPLX1): c.315C> A (p.Cys105Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 786591: 786591
4 CPLX1 NM_006651.3(CPLX1): c.315C> A (p.Cys105Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 780379: 780379
5 CPLX1 NM_006651.3(CPLX1): c.382C> A (p.Leu128Met) single nucleotide variant Pathogenic rs371709824 GRCh38 Chromosome 4, 786524: 786524
6 CPLX1 NM_006651.3(CPLX1): c.382C> A (p.Leu128Met) single nucleotide variant Pathogenic 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 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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