400 Parnassus Ave.
San Francisco, CA 94143-0136
Phone: (415) 353-2525
Fax: (415) 476-1343
Our group has characterized the molecular and genetic basis of many episodic disorders of the nervous system. Many of the periodic paralyses and non-dystrophic myotonias occur as the result of mutations in ion channel genes. Our lab has laid the ground work for the group of disorders now called the "channelopathies". We've extended our work to other episodic phenomena like epilepsy, migraine and the paroxysmal dyskinesias. Andersen/Tawil syndrome (ATS) is a rare form of periodic paralysis that occurs along with cardiac arrhythmias and characteristic developmental features of the head and face and the distal limbs. We've cloned the gene responsible for a large proportion of ATS patients and characterized the physiological consequences of mutations in this gene. Ongoing work is focused on identifying additional ATS gene(s), generating animal models of ATS, and characterizing new ATS phenotypes.
Useful Links:UCSF Laboratories of Neurogenetics