Episodic ataxia type 6

General Information (adopted from Orphanet):

Synonyms, Signs: EA6
Number of Symptoms 7
OrphanetNr: 209967
OMIM Id: 612656
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary episodic ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002301) Hemiplegia 42 / 7739
2
(HPO:0001269) Hemiparesis 51 / 7739
3
(HPO:0002131) Episodic ataxia 16 / 7739
4
(HPO:0002078) Truncal ataxia 41 / 7739
5
(HPO:0002076) Migraine 41 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0001350) Slurred speech 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jen et al. (2005) reported a 10-year-old boy with a severe form of episodic ataxia with seizures, migraine, and alternating hemiplegia. From birth, he had experienced 4 discrete episodes of ataxia and slurred speech, seemingly triggered by febrile ...
Molecular genetics OMIM In a 10-year-old boy with EA6, Jen et al. (2005) identified a heterozygous mutation in the SLC1A3 gene (600111.0001). Cellular studies showed that the mutation resulted in markedly decreased glutamate uptake. Jen et al. (2005) postulated a role ...