Symbol
| EA1
|
Location
| 12p13.32
|
Name
|
episodic ataxia, type 1 |
Other name(s)
|
episodic ataxia with myokymia
. paroximal ataxia with neuromyotonia, hereditary |
Corresponding gene
|
KCNA1
|
Other symbol(s)
| AEMK, AEM
|
Main clinical features
|
dysarthria and spontaneous repetitive discharges in distal musculature (myokymia) and sometimes with partial epilepsy |
Genetic determination
| autosomal dominant |
Related entries
| . including cases characterized by myokymia and epilepsy without ataxia episodes or myokymia only
|
Function/system disorder
| neuromuscular |
| neurology |
Type
| disease
|