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We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments. |
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ying-hui fu's & louis ptáček's |
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Epilepsy |
epilepsy Epilepsy is a family of more than 40 neurological conditions with a common symptom, seizures or convulsions. It is documented to affect 2.5% of the population. A large percentage of epileptic conditions are recognized to be idiopathic and familial. Of particular interest are the forms of epilepsy that aren’t caused by structural or developmental lesions like trauma or brain tumors because they suggest some inherent hyperexcitablilty. Reflex epilepsies include seizures that can be induced by various sensory stimuli in humans. Audiogenic seizures are common in inbred mouse strains and share similar precipitants. The most common reflex recognized in epilepsy is that strobe lights flashing at a particular frequency induce spikes on EEG and blatant seizures in some patients. Our Research While it is clear that there is a strong genetic component associated with Epilepsy, the mode of transmission is not well understood. The complexity of the inheritance pattern probably reflects genetic and clinical heterogeneity. We speculate that the understanding gained from the study of rare monogenic traits such as Familial Adult Myoclonic Epilepsy (FAME), a rare form of myoclonic epilepsy, will provide clues into the more complicated genetics and biology of epilepsy. In addition, statistical approaches and association studies in large patient populations will facilitate the molecular characterization of polygenic episodic disorders like migraine and epilepsy. Our Laboratories Sometimes, symptoms caused by other medical conditions can mimic the effect of genetic mutations. In such cases, diagnosis and treatment of the condition is most effectively provided through traditional medical channels. Academic research laboratories such as ours do not usually provide these services; rather we are focused on genetic discoveries we hope will lead to defining these future diagnostic and treatment pathways. Study Status If you believe that you or a family member may qualify and would be interested in participating in this study, please contact the Clinical Coordinator listed below. What Does Study Participation Involve? 1. As an initial screening process, you will be asked to fill out a questionnaire describing your family disease history. This questionnaire is used to help researchers assess your medical condition. 2. If your condition appears to match the condition currently under study, you may be asked to submit additional information, including medical records and/or test results that will be used in the medical evaluation. 3. You will be asked to donate a blood sample (approximately 2-3 tablespoons) which we will use to isolate the DNA that we study. Contact Kristin Wong, Clinical Coordinator University of California San Francisco Department of Neurology, MC 2922 1550 Fourth St., Room 546 San Francisco, CA 94158-2324 USA Tel: 415-502-3976 Fax: 415-502-5641 Email: kristin.wong2@ucsf.edu |
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Quick Links: For more information, please visit the following sites: National Organization for Rare Disorders |
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circadian rhythm & sleep | episodic diseases | neurodegeneration |
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UCSF - Department of Neurology,
MC 2922 1550 Fourth St., Room 548 San Francisco, CA 94158-2324 USA tel: +1.415.502.5614 fax: +1.415.502.5641 |
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If you experience any difficulties with this site, please email our web developer. The University of California, San Francisco, CA 94143, +1.415.476.9000 Copyright © 2004-2006 The Regents of the University of California. All Rights Reserved. |
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