Louis Ptáček

Louis Ptáček is an American neurologist and professor who contributed greatly to the field of genetics and neuroscience. His chief areas of research include the understanding of inherited Mendelian disorders, and circadian rhythm genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics in University of California, San Francisco, School of Medicine. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders which include identifying and characterizing the genes responsible for neurological variations.

In 1982, Louis Ptáček earned his Bachelor of Science degree in mathematics from the University of Wisconsin-Madison. In 1986, he received his Doctor of Medicine degree from the University of Wisconsin-Madison Medical School. During his neurology residency at University of Utah, he met a 28-year-old female patient who was suffering from sporadic paralysis, that inspired his current interest in the research of genetic diseases and episodic disorders. In 1991, he discovered that a mutation in a gene (SCN4A) that coded for a muscle cell sodium channel caused the patient’s condition, hyperkalemic periodic paralysis. As the first channel discovered to cause human disease, this human skeletal muscle sodium channel prevented the muscle from proper contractions. This invoked a series of discoveries of mutant ion channel genes which constructed the framework for studying similar diseases, which Ptáček calls “channelopathies.”

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