IndraLab

Statements


SCN4A activates PPY. 2 / 2
| 2

reach
"In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c. 2111C> T without the mutation c. 4343G> A. Conclusions SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2)."

reach
"XREF_BIBR XREF_BIBR XREF_BIBR Hyper PP is caused by mutations in the sodium channel gene SCN4A."