IndraLab

Statements

Mutated KCNC3 activates SCA13. 3 / 3
| 3
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."
21479265
reach
"A KCNC3 mutation causes a neurodevelopmental, non progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking."
28467418
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"SCA13 caused by KCNC3 mutations may present with deep sensory loss and cognitive impairment in addition to cerebellar ataxia."
31907387