IndraLab

Statements


Mutated KCNC3 activates SCA13. 3 / 3
| 3

reach
"A KCNC3 mutation causes a neurodevelopmental, non progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking."

reach
"Our present data support the notion that SCA13 is a rare ataxia and that KCNC3 mutations causing SCA13 have arisen in a number of ethnic groups."

reach
"SCA13 caused by KCNC3 mutations may present with deep sensory loss and cognitive impairment in addition to cerebellar ataxia."