EIEE63
MCID: EPL222
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 63 (EIEE63)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 6
Eiee63 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 63

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include liver and eye, and related phenotypes are hypertelorism and intellectual disability

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 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
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes


Clinical features from OMIM:

617976

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 abnormal facial shape 32 HP:0001999
5 long philtrum 32 HP:0000343
6 generalized myoclonic seizures 32 HP:0002123
7 absent speech 32 HP:0001344
8 inability to walk 32 HP:0002540
9 cerebral cortical atrophy 32 very rare (1%) HP:0002120
10 midface retrusion 32 HP:0011800
11 epileptic encephalopathy 32 HP:0200134
12 delayed ability to walk 32 HP:0031936

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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 63:

41
Liver, Eye

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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