EIEE68
MCID: EPL232
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 68 (EIEE68)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 68

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 68:

Name: Epileptic Encephalopathy, Early Infantile, 68 58 76 6
Eiee68 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epileptic encephalopathy, early infantile, 68:
Onset and clinical course progressive


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 68

UniProtKB/Swiss-Prot : 76 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 : Epileptic Encephalopathy, Early Infantile, 68, is also known as eiee68. An important gene associated with Epileptic Encephalopathy, Early Infantile, 68 is TRAK1 (Trafficking Kinesin Protein 1). Affiliated tissues include brain, liver and eye, and related phenotypes are spasticity and clonus

OMIM : 58 EIEE68 is an autosomal recessive 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 EIEE, see EIEE1 (308350). (618201)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 68

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 68

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 68:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 clonus 33 HP:0002169
3 developmental regression 33 HP:0002376
4 global developmental delay 33 HP:0001263
5 myoclonus 33 HP:0001336
6 cerebral cortical atrophy 33 HP:0002120
7 exaggerated startle response 33 HP:0002267
8 status epilepticus 33 HP:0002133
9 muscle fibrillation 33 HP:0010546
10 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
myoclonus
status epilepticus
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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 68

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 68

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 68

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 68

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 68:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 68

Articles related to Epileptic Encephalopathy, Early Infantile, 68:

# Title Authors Year
1
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. ( 29846532 )
2018
2
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. ( 28364549 )
2017
3
Expanding the genetic heterogeneity of intellectual disability. ( 28940097 )
2017

Variations for Epileptic Encephalopathy, Early Infantile, 68

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 68:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAK1 NM_001042646.3(TRAK1): c.287-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 42176812: 42176812
2 TRAK1 NM_001042646.3(TRAK1): c.287-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 42218304: 42218304
3 TRAK1 NM_001042646.3(TRAK1): c.287-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 3, 42218304: 42218304
4 TRAK1 NM_001042646.3(TRAK1): c.287-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 3, 42176812: 42176812
5 TRAK1 NM_001042646.3(TRAK1): c.1759dup (p.His587Profs) duplication Pathogenic GRCh37 Chromosome 3, 42251273: 42251273
6 TRAK1 NM_001042646.3(TRAK1): c.1759dup (p.His587Profs) duplication Pathogenic GRCh38 Chromosome 3, 42209781: 42209781
7 TRAK1 NM_001042646.3(TRAK1): c.986T> C (p.Leu329Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 42236306: 42236306
8 TRAK1 NM_001042646.3(TRAK1): c.986T> C (p.Leu329Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 42194814: 42194814

Expression for Epileptic Encephalopathy, Early Infantile, 68

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 68.

Pathways for Epileptic Encephalopathy, Early Infantile, 68

GO Terms for Epileptic Encephalopathy, Early Infantile, 68

Sources for Epileptic Encephalopathy, Early Infantile, 68

3 CDC
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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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