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 57 74 29 6
Eiee64 57 74
Rhobtb2-Related Developmental and Epileptic Encephalopathy 53
Encephalopathy, Epileptic, Early Infantile, Type 64 40
Early Infantile Epileptic Encephalopathy-64 53
Rhobtb2 Missense Variants 53

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:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 64

UniProtKB/Swiss-Prot : 74 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 microcephaly and intellectual disability

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 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 64

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 intellectual disability 32 HP:0001249
3 chorea 32 HP:0002072
4 developmental regression 32 HP:0002376
5 macrotia 32 HP:0000400
6 global developmental delay 32 HP:0001263
7 depressed nasal bridge 32 HP:0005280
8 abnormal facial shape 32 HP:0001999
9 smooth philtrum 32 HP:0000319
10 micrognathia 32 HP:0000347
11 generalized hypotonia 32 HP:0001290
12 epicanthus 32 HP:0000286
13 absent speech 32 HP:0001344
14 dystonia 32 HP:0001332
15 inability to walk 32 HP:0002540
16 ventriculomegaly 32 HP:0002119
17 cerebral cortical atrophy 32 HP:0002120
18 cerebellar hypoplasia 32 HP:0001321
19 status epilepticus 32 HP:0002133
20 thin upper lip vermilion 32 HP:0000219
21 hypoplasia of the corpus callosum 32 HP:0002079
22 hemiparesis 32 HP:0001269
23 delayed myelination 32 HP:0012448
24 limb hypertonia 32 HP:0002509

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

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
behavioral abnormalities

Growth Other:
poor postnatal growth

Head And Neck Nose:
depressed nasal bridge

Head And Neck Mouth:
thin upper lip

Head And Neck Eyes:
epicanthal folds

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

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 64:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 64 29 RHOBTB2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 64

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

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 64

Articles related to Epileptic Encephalopathy, Early Infantile, 64:

# Title Authors PMID Year
1
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. 8 71
29276004 2018
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 64

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 RHOBTB2 p.Asn488Asp VAR_079030 rs155450467
2 RHOBTB2 p.Ala452Gly VAR_080812 rs155450465
3 RHOBTB2 p.Arg461His VAR_080813 rs155450466
4 RHOBTB2 p.Arg485Cys VAR_080814
5 RHOBTB2 p.Arg489Gln VAR_080815 rs155450468
6 RHOBTB2 p.Arg489Trp VAR_080816 rs155450468

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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