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GENATLAS PHENOTYPE |
last update : 27-11-2018 |
Symbol | EIEE69 |
Location | 1q25.3 |
Name | epileptic encephalopathy, early infantile, 68 |
Corresponding gene | CACNA1E |
Main clinical features |
|
Genetic determination | not applicable |
Function/system disorder | mental retardation |
neurology | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/gain of function
| characterized by facilitated voltage-dependent activation, slowed inactivation, and increased current density (PMID: 30343943)
| |
Remark(s) |