DEE68
MCID: DVL092
MIFTS: 24

Developmental and Epileptic Encephalopathy 68 (DEE68)

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 68

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 68:

Name: Developmental and Epileptic Encephalopathy 68 57 12
Developmental and Epileptic Encephalopathy, 68 29 6
Epileptic Encephalopathy, Early Infantile, 68 57 72
Eiee68 57 72
Dee68 57 12
Epileptic Encephalopathy, Early Infantile, 68; Eiee68 57
Early Infantile Epileptic Encephalopathy 68 12

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
early death may occur
onset in first months or year of life


HPO:

31
developmental and epileptic encephalopathy 68:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 68

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 68: 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. EIEE68 is an autosomal recessive form characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus.

MalaCards based summary : Developmental and Epileptic Encephalopathy 68, is also known as developmental and epileptic encephalopathy, 68. An important gene associated with Developmental and Epileptic Encephalopathy 68 is TRAK1 (Trafficking Kinesin Protein 1). Related phenotypes are microcephaly and flexion contracture

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has material basis in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1.

OMIM® : 57 Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by Barel et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618201) (Updated 05-Apr-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 68

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 68

Human phenotypes related to Developmental and Epileptic Encephalopathy 68:

31 (showing 14, show less)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 flexion contracture 31 very rare (1%) HP:0001371
3 respiratory distress 31 very rare (1%) HP:0002098
4 spasticity 31 HP:0001257
5 failure to thrive 31 HP:0001508
6 clonus 31 HP:0002169
7 developmental regression 31 HP:0002376
8 global developmental delay 31 HP:0001263
9 myoclonus 31 HP:0001336
10 cerebral cortical atrophy 31 HP:0002120
11 encephalopathy 31 HP:0001298
12 status epilepticus 31 HP:0002133
13 exaggerated startle response 31 HP:0002267
14 muscle fibrillation 31 HP:0010546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
myoclonus
encephalopathy
more
Skeletal:
contractures (in some patients)

Respiratory:
respiratory distress (in some patients)

Head And Neck Face:
perioral twitching

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia, axial

Head And Neck Head:
small head circumference (in some patients)

Clinical features from OMIM®:

618201 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 68

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 68

Genetic Tests for Developmental and Epileptic Encephalopathy 68

Genetic tests related to Developmental and Epileptic Encephalopathy 68:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 68 29 TRAK1

Anatomical Context for Developmental and Epileptic Encephalopathy 68

Publications for Developmental and Epileptic Encephalopathy 68

Articles related to Developmental and Epileptic Encephalopathy 68:

(showing 4, show less)
# Title Authors PMID Year
1
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. 57 6
29846532 2018
2
Expanding the genetic heterogeneity of intellectual disability. 6 57
28940097 2017
3
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 6 57
28364549 2017
4
Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. 57
16380713 2006

Variations for Developmental and Epileptic Encephalopathy 68

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 68:

6 (showing 7, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAK1 NM_001042646.3(TRAK1):c.287-2A>C SNV Pathogenic 590942 rs1559877920 GRCh37: 3:42218304-42218304
GRCh38: 3:42176812-42176812
2 TRAK1 NM_001042646.3(TRAK1):c.287-2A>G SNV Pathogenic 590943 rs1559877920 GRCh37: 3:42218304-42218304
GRCh38: 3:42176812-42176812
3 TRAK1 NM_001042646.3(TRAK1):c.1759dup (p.His587fs) Duplication Pathogenic/Likely pathogenic 590944 rs1559390743 GRCh37: 3:42251272-42251273
GRCh38: 3:42209780-42209781
4 TRAK1 NM_001042646.3(TRAK1):c.1963+101GGA[12] Microsatellite Uncertain significance 977317 GRCh37: 3:42251577-42251578
GRCh38: 3:42210085-42210086
5 TRAK1 NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) SNV Uncertain significance 590945 rs770281448 GRCh37: 3:42236306-42236306
GRCh38: 3:42194814-42194814
6 TRAK1 NM_001042646.3(TRAK1):c.2345C>T (p.Pro782Leu) SNV Uncertain significance 1031010 GRCh37: 3:42264712-42264712
GRCh38: 3:42223220-42223220
7 TRAK1 NM_001042646.3(TRAK1):c.568G>A (p.Val190Ile) SNV Uncertain significance 1031011 GRCh37: 3:42229624-42229624
GRCh38: 3:42188132-42188132

Expression for Developmental and Epileptic Encephalopathy 68

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 68.

Pathways for Developmental and Epileptic Encephalopathy 68

GO Terms for Developmental and Epileptic Encephalopathy 68

Sources for Developmental and Epileptic Encephalopathy 68

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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