EIEE64
MCID: EPL223
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 64 (EIEE64)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 64

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 64:

Name: Epileptic Encephalopathy, Early Infantile, 64 58 76 6
Eiee64 58 76
Rhobtb2-Related Developmental and Epileptic Encephalopathy 54
Early Infantile Epileptic Encephalopathy-64 54
Rhobtb2 Missense Variants 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in the first year of life
seizures tend to respond to medical treatment


HPO:

33
epileptic encephalopathy, early infantile, 64:
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 64

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 64: 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. EIEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 64, is also known as eiee64. An important gene associated with Epileptic Encephalopathy, Early Infantile, 64 is RHOBTB2 (Rho Related BTB Domain Containing 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and chorea

OMIM : 58 Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618004)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 64

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 64

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 64:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 chorea 33 HP:0002072
3 developmental regression 33 HP:0002376
4 global developmental delay 33 HP:0001263
5 abnormal facial shape 33 HP:0001999
6 smooth philtrum 33 HP:0000319
7 micrognathia 33 HP:0000347
8 absent speech 33 HP:0001344
9 dystonia 33 HP:0001332
10 inability to walk 33 HP:0002540
11 ventriculomegaly 33 HP:0002119
12 cerebral cortical atrophy 33 HP:0002120
13 cerebellar hypoplasia 33 HP:0001321
14 status epilepticus 33 HP:0002133
15 hypoplasia of the corpus callosum 33 HP:0002079
16 hemiparesis 33 HP:0001269
17 limb hypertonia 33 HP:0002509
18 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental regression
dystonia
inability to walk
cerebellar hypoplasia
status epilepticus
more
Head And Neck Face:
smooth philtrum
micrognathia
dysmorphic facial features, variable, nonspecific

Head And Neck Eyes:
epicanthal folds

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
behavioral abnormalities

Growth Other:
poor postnatal growth

Head And Neck Nose:
depressed nasal bridge

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
thin upper lip

Head And Neck Ears:
large ears

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM:

618004

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 64

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 64

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 64

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 64

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 64:

42
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 64

Variations for Epileptic Encephalopathy, Early Infantile, 64

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 64:

76
# Symbol AA change Variation ID SNP ID
1 RHOBTB2 p.Asn488Asp VAR_079030
2 RHOBTB2 p.Ala452Gly VAR_080812
3 RHOBTB2 p.Arg461His VAR_080813
4 RHOBTB2 p.Arg485Cys VAR_080814
5 RHOBTB2 p.Arg489Gln VAR_080815
6 RHOBTB2 p.Arg489Trp VAR_080816

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 64:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHOBTB2 NM_001160036.1(RHOBTB2): c.1531C> T (p.Arg511Trp) single nucleotide variant Likely pathogenic rs1554504681 GRCh38 Chromosome 8, 23007710: 23007710
2 RHOBTB2 NM_001160036.1(RHOBTB2): c.1531C> T (p.Arg511Trp) single nucleotide variant Likely pathogenic rs1554504681 GRCh37 Chromosome 8, 22865223: 22865223
3 RHOBTB2 NM_001160036.1(RHOBTB2): c.1528A> G (p.Asn510Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1554504678 GRCh38 Chromosome 8, 23007707: 23007707
4 RHOBTB2 NM_001160036.1(RHOBTB2): c.1528A> G (p.Asn510Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1554504678 GRCh37 Chromosome 8, 22865220: 22865220
5 RHOBTB2 NM_001160036.1(RHOBTB2): c.1448G> A (p.Arg483His) single nucleotide variant Pathogenic rs1554504663 GRCh37 Chromosome 8, 22865140: 22865140
6 RHOBTB2 NM_001160036.1(RHOBTB2): c.1448G> A (p.Arg483His) single nucleotide variant Pathogenic rs1554504663 GRCh38 Chromosome 8, 23007627: 23007627
7 RHOBTB2 NM_001160036.1(RHOBTB2): c.1532G> A (p.Arg511Gln) single nucleotide variant Pathogenic rs1554504684 GRCh37 Chromosome 8, 22865224: 22865224
8 RHOBTB2 NM_001160036.1(RHOBTB2): c.1532G> A (p.Arg511Gln) single nucleotide variant Pathogenic rs1554504684 GRCh38 Chromosome 8, 23007711: 23007711
9 RHOBTB2 NM_001160036.1(RHOBTB2): c.1421C> G (p.Ala474Gly) single nucleotide variant Likely pathogenic rs1554504656 GRCh37 Chromosome 8, 22865113: 22865113
10 RHOBTB2 NM_001160036.1(RHOBTB2): c.1421C> G (p.Ala474Gly) single nucleotide variant Likely pathogenic rs1554504656 GRCh38 Chromosome 8, 23007600: 23007600
11 RHOBTB2 NM_001160036.1(RHOBTB2): c.1519C> T (p.Arg507Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 23007698: 23007698
12 RHOBTB2 NM_001160036.1(RHOBTB2): c.1519C> T (p.Arg507Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 22865211: 22865211

Expression for Epileptic Encephalopathy, Early Infantile, 64

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 64.

Pathways for Epileptic Encephalopathy, Early Infantile, 64

GO Terms for Epileptic Encephalopathy, Early Infantile, 64

Sources for Epileptic Encephalopathy, Early Infantile, 64

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
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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