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GENATLAS PHENOTYPE |
last update : 28-03-2013 |
Symbol | ENFL4 |
Location | 8p21.2 |
Name | epilepsy, nocturnal frontal lobe, type 4 |
Corresponding gene | CHRNA2 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| markedly increasing the receptor sensitivity to acetylcholine
| |
Remark(s) |