DEE63
MCID: DVL087
MIFTS: 23

Developmental and Epileptic Encephalopathy 63 (DEE63)

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 63

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 63:

Name: Developmental and Epileptic Encephalopathy 63 57 12
Developmental and Epileptic Encephalopathy, 63 29 6
Epileptic Encephalopathy, Early Infantile, 63 57 72
Eiee63 57 72
Dee63 57 12
Epileptic Encephalopathy, Early Infantile, 63; Eiee63 57
Encephalopathy, Epileptic, Early Infantile, Type 63 39
Early Infantile Epileptic Encephalopathy 63 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
developmental and epileptic encephalopathy 63:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 63

OMIM® : 57 Developmental and epileptic encephalopathy-63 (DEE63) is an autosomal recessive neurologic disorder characterized by early-onset refractory infantile spasms and myoclonic seizures in the first months to years of life. Affected individuals have severe to profound developmental delay, often with hypotonia and inability to sit or speak (summary by Redler et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. (617976) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 63, is also known as developmental and epileptic encephalopathy, 63. An important gene associated with Developmental and Epileptic Encephalopathy 63 is CPLX1 (Complexin 1). Affiliated tissues include brain, and related phenotypes are cerebral cortical atrophy and intellectual disability

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has material basis in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 63

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 63

Human phenotypes related to Developmental and Epileptic Encephalopathy 63:

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 31 very rare (1%) HP:0002120
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 abnormal facial shape 31 HP:0001999
6 absent speech 31 HP:0001344
7 thin upper lip vermilion 31 HP:0000219
8 long philtrum 31 HP:0000343
9 midface retrusion 31 HP:0011800
10 feeding difficulties 31 HP:0011968
11 generalized hypotonia 31 HP:0001290
12 inability to walk 31 HP:0002540
13 epileptic encephalopathy 31 HP:0200134
14 overlapping toe 31 HP:0001845
15 delayed ability to walk 31 HP:0031936
16 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
inability to walk
epileptic encephalopathy
myoclonic seizures
seizures, refractory
more
Head And Neck Face:
long philtrum
flat midface
dysmorphic facial features

Head And Neck Mouth:
thin upper lip

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
hypertelorism
bowed eyebrows

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes

Clinical features from OMIM®:

617976 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 63

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 63

Genetic Tests for Developmental and Epileptic Encephalopathy 63

Genetic tests related to Developmental and Epileptic Encephalopathy 63:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 63 29 CPLX1

Anatomical Context for Developmental and Epileptic Encephalopathy 63

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 63:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 63

Articles related to Developmental and Epileptic Encephalopathy 63:

(showing 2, show less)
# Title Authors PMID Year
1
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. 6 57
28422131 2017
2
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 57 6
26539891 2015

Variations for Developmental and Epileptic Encephalopathy 63

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 63:

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPLX1 NM_006651.4(CPLX1):c.400A>T (p.Lys134Ter) SNV Pathogenic 1030122 GRCh37: 4:780294-780294
GRCh38: 4:786506-786506
2 CPLX1 NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) SNV Likely pathogenic 402136 rs1060499735 GRCh37: 4:780372-780372
GRCh38: 4:786584-786584
3 CPLX1 NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) SNV Likely pathogenic 523649 rs1553851860 GRCh37: 4:780379-780379
GRCh38: 4:786591-786591
4 CPLX1 NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) SNV Uncertain significance 523650 rs371709824 GRCh37: 4:780312-780312
GRCh38: 4:786524-786524

Expression for Developmental and Epileptic Encephalopathy 63

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 63.

Pathways for Developmental and Epileptic Encephalopathy 63

GO Terms for Developmental and Epileptic Encephalopathy 63

Sources for Developmental and Epileptic Encephalopathy 63

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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