MCID: EPS033
MIFTS: 22

Episodic Ataxia, Type 8

Categories: Neuronal diseases, Rare diseases, Genetic 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 59
Episodic Ataxia with Slurred Speech 59
Ea8 57

Characteristics:

Orphanet epidemiological data:

59
episodic ataxia with slurred speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant

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)


HPO:

32
episodic ataxia, type 8:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616055
Disease Ontology 12 DOID:0050996
Orphanet 59 ORPHA401953
ICD10 via Orphanet 34 G11.8
MedGen 42 C4015108

Summaries for Episodic Ataxia, Type 8

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

Description from OMIM: 616055

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

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 11.1
2 endotheliitis 10.0

Symptoms & Phenotypes for Episodic Ataxia, Type 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Episodic Ataxia, Type 8:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 occasional (7.5%) Frequent (79-30%) HP:0001260
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
5 slurred speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001350
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
8 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
9 myokymia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002411
10 ataxia 32 HP:0001251
11 intention tremor 32 occasional (7.5%) HP:0002080
12 episodic ataxia 32 HP:0002131
13 abnormal involuntary eye movements 59 Frequent (79-30%)

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:

41
Eye

Publications for Episodic Ataxia, Type 8

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 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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