Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

Life Sciences, Bioinformatics, Sequence Analysis +3

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

Qing Wang, Jiaxiang Shen, Igor Splawski et al. · Cell · 1995 · 1.7K citations · Full text

Medicine, Genetics, Molecular Genetics +14

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +8

Calcium channel characteristics conferred on the sodium channel by single mutations

Stefan H. Heinemann, Heinrich Terlau, Walter Stühmer et al. · Nature · 1992 · 787 citations

Natural Sciences, Biophysics, Physiology +16

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

D.L. Browne, Stephen T. Gancher, John G. Nutt et al. · Nature Genetics · 1994 · 776 citations

Life Sciences, Genetics, Molecular Genetics +16