MCID: EPL223
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 64

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 6
Eiee64 57

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


Classifications:



External Ids:

OMIM 57 618004

Summaries for Epileptic Encephalopathy, Early Infantile, 64

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)

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.

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
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

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

Publications for Epileptic Encephalopathy, Early Infantile, 64

Variations for Epileptic Encephalopathy, Early Infantile, 64

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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