TY - JOUR
T1 - Hereditary dysfunction of voltage-gated sodium channels
T2 - From clinical phenotype to molecular mechanisms
AU - George, Alfred L.
N1 - Funding Information:
Acknowledgements. The author is a Lucille P. Markey Scholar, and this work is supported by the National Institutes of Health (NS 32387).
PY - 1996/9
Y1 - 1996/9
N2 - Genetic disorders of ion channel function are being increasingly recognized due to advances in molecular genetic techniques. Disorders such as those illustrated herein, offer unique opportunities to correlate clinical phenotypes to specific physiological disturbances at the molecular level. These advances in understanding pathophysiology will almost certainly lead to more rationale drug therapy, improved diagnosis, and a more complete appreciation for the importance of ion channels in health and disease.
AB - Genetic disorders of ion channel function are being increasingly recognized due to advances in molecular genetic techniques. Disorders such as those illustrated herein, offer unique opportunities to correlate clinical phenotypes to specific physiological disturbances at the molecular level. These advances in understanding pathophysiology will almost certainly lead to more rationale drug therapy, improved diagnosis, and a more complete appreciation for the importance of ion channels in health and disease.
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U2 - 10.1093/oxfordjournals.ndt.a027659
DO - 10.1093/oxfordjournals.ndt.a027659
M3 - Review article
C2 - 8918613
AN - SCOPUS:9544248756
SN - 0931-0509
VL - 11
SP - 1730
EP - 1737
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
IS - 9
ER -