DEE64
MCID: DVL088
MIFTS: 25

Developmental and Epileptic Encephalopathy 64 (DEE64)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 64

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 64:

Name: Developmental and Epileptic Encephalopathy 64 57
Developmental and Epileptic Encephalopathy, 64 29 6
Epileptic Encephalopathy, Early Infantile, 64 57 73
Eiee64 57 73
Rhobtb2-Related Developmental and Epileptic Encephalopathy 20
Epileptic Encephalopathy, Early Infantile, 64; Eiee64 57
Encephalopathy, Epileptic, Early Infantile, Type 64 39
Early Infantile Epileptic Encephalopathy-64 20
Rhobtb2 Missense Variants 20
Dee64 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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
developmental and epileptic encephalopathy 64:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 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 : Developmental and Epileptic Encephalopathy 64, is also known as developmental and epileptic encephalopathy, 64. An important gene associated with Developmental and Epileptic Encephalopathy 64 is RHOBTB2 (Rho Related BTB Domain Containing 2). Affiliated tissues include brain, and related phenotypes are microcephaly and intellectual disability

OMIM® : 57 Developmental and epileptic encephalopathy-64 (DEE64) 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 DEE, see 308350. (618004) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 64

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 64

Human phenotypes related to Developmental and Epileptic Encephalopathy 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 smooth philtrum 31 HP:0000319
10 absent speech 31 HP:0001344
11 micrognathia 31 HP:0000347
12 epicanthus 31 HP:0000286
13 cerebral cortical atrophy 31 HP:0002120
14 thin upper lip vermilion 31 HP:0000219
15 ventriculomegaly 31 HP:0002119
16 dystonia 31 HP:0001332
17 cerebellar hypoplasia 31 HP:0001321
18 hypoplasia of the corpus callosum 31 HP:0002079
19 status epilepticus 31 HP:0002133
20 hemiparesis 31 HP:0001269
21 generalized hypotonia 31 HP:0001290
22 inability to walk 31 HP:0002540
23 limb hypertonia 31 HP:0002509
24 delayed myelination 31 HP:0012448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
developmental regression
dystonia
cerebellar hypoplasia
status epilepticus
hemiparesis
more
Head And Neck Face:
smooth philtrum
micrognathia
dysmorphic facial features, variable, nonspecific

Head And Neck Mouth:
thin upper lip

Head And Neck Eyes:
epicanthal folds

Growth Other:
poor postnatal growth

Head And Neck Nose:
depressed nasal bridge

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
stereotypic movements

Head And Neck Ears:
large ears

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

618004 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 64

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 64

Genetic Tests for Developmental and Epileptic Encephalopathy 64

Genetic tests related to Developmental and Epileptic Encephalopathy 64:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 64 29 RHOBTB2

Anatomical Context for Developmental and Epileptic Encephalopathy 64

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 64:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 64

Articles related to Developmental and Epileptic Encephalopathy 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. 57 6
29276004 2018
2
RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. 61
33504645 2021

Variations for Developmental and Epileptic Encephalopathy 64

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 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.1528A>G (p.Asn510Asp) SNV Likely pathogenic 521853 rs1554504678 8:22865220-22865220 8:23007707-23007707
5 RHOBTB2 NM_001160036.2(RHOBTB2):c.1421C>G (p.Ala474Gly) SNV Likely pathogenic 545421 rs1554504656 8:22865113-22865113 8:23007600-23007600
6 RHOBTB2 NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) SNV Conflicting interpretations of pathogenicity 495261 rs1554504681 8:22865223-22865223 8:23007710-23007710
7 RHOBTB2 NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) SNV Uncertain significance 800793 rs1585190351 8:22863570-22863570 8:23006057-23006057
8 RHOBTB2 NM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val) SNV not provided 973016 8:22872268-22872268 8:23014755-23014755

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 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 rs156329258
5 RHOBTB2 p.Arg489Gln VAR_080815 rs155450468
6 RHOBTB2 p.Arg489Trp VAR_080816 rs155450468

Expression for Developmental and Epileptic Encephalopathy 64

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 64.

Pathways for Developmental and Epileptic Encephalopathy 64

GO Terms for Developmental and Epileptic Encephalopathy 64

Sources for Developmental and Epileptic Encephalopathy 64

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....