| Symbol
| ECA6
|
| Location
| 16p13
|
| Name
|
epilepsy, childhood absence, 6 |
| Corresponding gene
|
CACNA1H
|
| Main clinical features
|
5 to 15% of childhood epilepsies
begin at age 6-7 years, in contrast to juvenile absence epilepsy characterize by frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG; generalized tonic-clonic seizures often develop during adolescence |
| Genetic determination
| multigenic |
| Related entries
| including idiopathic generalized epilepsies
|
| Function/system disorder
| neurology |
| Type
| susceptibility factor
|
| Name
| calcium channel, voltage-dependent, alpha 1H subunit, susceptibility gene
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
|
| clustered near segments associated with anomalous splicing, found to destroy, create or change the regulatory specificity of predicted exonic splicing enhancer sequences that may control splicing regulation
| |