My area of research is the study of the molecular genetics and mechanisms in hereditary neurological disease. In my research I apply a multidisciplinary approach to identify the genes, mutations and molecular mechanisms responsible for the inherited paroxysmal neurological diseases (channelopathies). This involves clinical identification of patients, gene scanning, linkage studies, mutation analysis, site directed mutagenesis and electrophysiological, and pharmacological studies of neuronal ion channels.
- Spacey SD, Adams P.J., Lam P.C.P., Materek L.A., Stoessl A.J., Snutch T.P., Hsiung R. G-Y. Genetic Heterogeneity in Paroxysmal Non-Kinesigenic Dyskinesia. Neurology. 2006 May 23;66(10):1588-90.
- Wong D, Dwinnel M, Schulzer M, Nimmo M, Leavitt BR, Spacey SD. Ataxia and the role of antigliadin antibodies. Can J Neurol Sci. 2007 May;34(2):193-6.
- Spacey SD. Episodic ataxia type 2. GeneReviewsTM at the GeneTests-GeneClinic Web site. Available at http://www.geneclinics.org (2007).
- Spacey SD. Adams P. Familial Paroxysmal Kinesigenic Dyskinesia. GeneReviewsTM at the GeneTests-GeneClinic Web site. Available at http://www.geneclinics.org (2007).
- Adams PJ, Garcia E, David LS, Mulatz KJ, Spacey, SD, Snutch TP.. Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies. Channels (Austin). 2009 Mar-Apr;3(2):110-21. Epub 2009 Mar 23.