EA8
MCID: EPS033
MIFTS: 19

Episodic Ataxia, Type 8 (EA8)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 8

MalaCards integrated aliases for Episodic Ataxia, Type 8:

Name: Episodic Ataxia, Type 8 57 29
Episodic Ataxia Type 8 12 58
Episodic Ataxia with Slurred Speech 58
Ea8 57

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia with slurred speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
nonprogressive
favorable response to clonazepam
onset around age 2 years
variable frequency (2 per day up to 1 per month)
variable duration (minutes to hours)
frequency of attacks may decrease with age or during pregnancy
one large 3-generation irish family has been reported (last curated october 2014)

Inheritance:
autosomal dominant


HPO:

31
episodic ataxia, type 8:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050996
OMIM® 57 616055
OMIM Phenotypic Series 57 PS160120
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA401953
MedGen 41 C4015108

Summaries for Episodic Ataxia, Type 8

Disease Ontology : 12 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has material basis in autosomal dominant inheritance of mutation in the UBR4 gene.

MalaCards based summary : Episodic Ataxia, Type 8, also known as episodic ataxia type 8, is related to episodic ataxia. An important gene associated with Episodic Ataxia, Type 8 is EA8 (Episodic Ataxia, Type 8). Affiliated tissues include eye, and related phenotypes are muscle weakness and slurred speech

More information from OMIM: 616055 PS160120

Related Diseases for Episodic Ataxia, Type 8

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 2 Episodic Ataxia, Type 1
Episodic Ataxia, Type 4 Episodic Ataxia, Type 3
Episodic Ataxia, Type 7 Episodic Ataxia, Type 6
Episodic Ataxia, Type 5 Episodic Ataxia, Type 8
Episodic Ataxia, Type 9 Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic ataxia 10.9

Symptoms & Phenotypes for Episodic Ataxia, Type 8

Human phenotypes related to Episodic Ataxia, Type 8:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001350
3 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
4 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
5 dysarthria 58 31 occasional (7.5%) Frequent (79-30%) HP:0001260
6 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
7 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
8 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
9 myokymia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002411
10 intention tremor 31 occasional (7.5%) HP:0002080
11 ataxia 31 HP:0001251
12 episodic ataxia 31 HP:0002131
13 abnormal involuntary eye movements 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia, episodic
intention tremor (in some patients)
slurred speech, episodic
dysarthria, mild (in some patients)
myokymia (in some patients)

Muscle Soft Tissue:
muscle weakness, episodic

Head And Neck Eyes:
nystagmus (in some patients)
twitching around the eyes, episodic

Clinical features from OMIM®:

616055 (Updated 05-Apr-2021)

Drugs & Therapeutics for Episodic Ataxia, Type 8

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 8

Genetic Tests for Episodic Ataxia, Type 8

Genetic tests related to Episodic Ataxia, Type 8:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 8 29

Anatomical Context for Episodic Ataxia, Type 8

MalaCards organs/tissues related to Episodic Ataxia, Type 8:

40
Eye

Publications for Episodic Ataxia, Type 8

Articles related to Episodic Ataxia, Type 8:

# Title Authors PMID Year
1
A novel locus for episodic ataxia:UBR4 the likely candidate. 57
23982692 2014

Variations for Episodic Ataxia, Type 8

Expression for Episodic Ataxia, Type 8

Search GEO for disease gene expression data for Episodic Ataxia, Type 8.

Pathways for Episodic Ataxia, Type 8

GO Terms for Episodic Ataxia, Type 8

Sources for Episodic Ataxia, Type 8

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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