Increased KCNJ18 promotor activity as a mechanism in atypical normokalemic periodic paralysis
Sprache des Titels:
Englisch
Original Kurzfassung:
A candidate gene approach was used to identify causative gene mutations, using Sanger se-
quencing.KCNJ18promoteractivitywasanalyzedintransfectedHEK293cellswithaluciferase
assay, andfunctional analysis ofKir2.6 channels wasperformed withthe two-electrode voltage-
clamp technique. Some investigations usedexperimental designs based on balanced incomplete block designs from planar near-rings.
Forschungs-