EIEE64
MCID: EPL223
MIFTS: 27

Epileptic Encephalopathy, Early Infantile, 64 (EIEE64)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee64 56 73
Rhobtb2-Related Developmental and Epileptic Encephalopathy 52
Encephalopathy, Epileptic, Early Infantile, Type 64 39
Early Infantile Epileptic Encephalopathy-64 52
Rhobtb2 Missense Variants 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
epileptic encephalopathy, early infantile, 64:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 64

UniProtKB/Swiss-Prot : 73 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, eye and bone, and related phenotypes are microcephaly and intellectual disability

OMIM : 56 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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 64

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 intellectual disability 31 HP:0001249
3 chorea 31 HP:0002072
4 developmental regression 31 HP:0002376
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 macrotia 31 HP:0000400
8 abnormal facial shape 31 HP:0001999
9 micrognathia 31 HP:0000347
10 cerebral cortical atrophy 31 HP:0002120
11 smooth philtrum 31 HP:0000319
12 generalized hypotonia 31 HP:0001290
13 epicanthus 31 HP:0000286
14 absent speech 31 HP:0001344
15 dystonia 31 HP:0001332
16 inability to walk 31 HP:0002540
17 ventriculomegaly 31 HP:0002119
18 cerebellar hypoplasia 31 HP:0001321
19 thin upper lip vermilion 31 HP:0000219
20 status epilepticus 31 HP:0002133
21 hypoplasia of the corpus callosum 31 HP:0002079
22 delayed myelination 31 HP:0012448
23 hemiparesis 31 HP:0001269
24 limb hypertonia 31 HP:0002509

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
developmental regression
dystonia
inability to walk
cerebellar hypoplasia
status epilepticus
more
Head And Neck Face:
micrognathia
smooth philtrum
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:

40
Brain, Eye, Bone, Liver

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. 56 6
29276004 2018
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 64

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln)SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711
2 RHOBTB2 NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys)SNV Pathogenic/Likely pathogenic 617912 rs1563292586 8:22865211-22865211 8:23007698-23007698
3 RHOBTB2 NM_001160036.2(RHOBTB2):c.1448G>A (p.Arg483His)SNV Pathogenic/Likely pathogenic 545417 rs1554504663 8:22865140-22865140 8:23007627-23007627
4 RHOBTB2 NM_001160036.2(RHOBTB2):c.1421C>G (p.Ala474Gly)SNV Likely pathogenic 545421 rs1554504656 8:22865113-22865113 8:23007600-23007600
5 RHOBTB2 NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp)SNV Likely pathogenic 495261 rs1554504681 8:22865223-22865223 8:23007710-23007710
6 RHOBTB2 NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp)SNV Conflicting interpretations of pathogenicity 521853 rs1554504678 8:22865220-22865220 8:23007707-23007707
7 RHOBTB2 NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)SNV Uncertain significance 800793 8:22863570-22863570 8:23006057-23006057

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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