EIEE64
MCID: EPL223
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 64 (EIEE64)

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, 64

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

Name: Epileptic Encephalopathy, Early Infantile, 64 57 75 6
Eiee64 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 64:
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 64

UniProtKB/Swiss-Prot : 75 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, liver and eye, and related phenotypes are intellectual disability and chorea

OMIM : 57 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 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, 64

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 chorea 32 HP:0002072
3 developmental regression 32 HP:0002376
4 global developmental delay 32 HP:0001263
5 abnormal facial shape 32 HP:0001999
6 smooth philtrum 32 HP:0000319
7 micrognathia 32 HP:0000347
8 absent speech 32 HP:0001344
9 dystonia 32 HP:0001332
10 inability to walk 32 HP:0002540
11 ventriculomegaly 32 HP:0002119
12 cerebral cortical atrophy 32 HP:0002120
13 cerebellar hypoplasia 32 HP:0001321
14 status epilepticus 32 HP:0002133
15 hypoplasia of the corpus callosum 32 HP:0002079
16 hemiparesis 32 HP:0001269
17 limb hypertonia 32 HP:0002509
18 delayed myelination 32 HP:0012448

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:

41
Brain, Liver, Eye

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:

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 RHOBTB2 NM_001160036.1(RHOBTB2): c.1531C> T (p.Arg511Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 23007710: 23007710
2 RHOBTB2 NM_001160036.1(RHOBTB2): c.1531C> T (p.Arg511Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 22865223: 22865223
3 RHOBTB2 NM_001160036.1(RHOBTB2): c.1528A> G (p.Asn510Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 23007707: 23007707
4 RHOBTB2 NM_001160036.1(RHOBTB2): c.1528A> G (p.Asn510Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 22865220: 22865220
5 RHOBTB2 NM_001160036.1(RHOBTB2): c.1448G> A (p.Arg483His) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22865140: 22865140
6 RHOBTB2 NM_001160036.1(RHOBTB2): c.1448G> A (p.Arg483His) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 23007627: 23007627
7 RHOBTB2 NM_001160036.1(RHOBTB2): c.1532G> A (p.Arg511Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22865224: 22865224
8 RHOBTB2 NM_001160036.1(RHOBTB2): c.1532G> A (p.Arg511Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 23007711: 23007711
9 RHOBTB2 NM_001160036.1(RHOBTB2): c.1421C> G (p.Ala474Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22865113: 22865113
10 RHOBTB2 NM_001160036.1(RHOBTB2): c.1421C> G (p.Ala474Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 23007600: 23007600

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
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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