J. Vale-Santos

A calcium channel mutation causing hypokalemic periodic paralysis

K Jurkat-Rott, Frank Lehmann‐Horn, Alexis Elbaz et al. · Human Molecular Genetics · 1994 · 314 citations

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

Karin Jurkat‐Rott, Nenad Mitrović, Chao Hang et al. · Proceedings of the National Academy of Sciences · 2000 · 265 citations

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

B. Fontaine, J. Vale-Santos, K Jurkat-Rott et al. · Nature Genetics · 1994 · 234 citations

Health Sciences, Cytogenetics, European Families +8

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

Alexis Elbaz, J. Vale-Santos, Karin Jurkat‐Rott et al. · PubMed · 1995 · 113 citations

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

R.H. Boerman, R. A. Ophoff, Thera P. Links et al. · Journal of Medical Genetics · 1995 · 24 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +18