This application proposes an international conference that will bring together the major groups of investigators and clinicians whose research programs are focused on neurological channelopathies, specifically the non-dystrophic myotonias (NDM). These disorders are rare but have a special place in the developing field of channelopathy research since: (1) they were among the first neurological disorders to be established to result from defined ion channel mutations; (2) there is an increasing understanding of their pathophysiology, and new opportunities for studying clinical and molecular correlations; (3) there are a number of logical treatment strategies that can be considered; (4) both in vitro and in vivo model systems are available and under study; (5) they are one of the main foci of the Office of Rare Diseases (ORD) / National Institute of Neurological Disorders and Stroke (NINDS)-funded initiative, """"""""The Clinical Investigation of Neurological Channelopathies (CINCH). The CINCH investigators are working closely with patient advocacy organizations, with General Clinical Research Centers, and with both the NINDS and the ORD to make NDM a model of a rare disease where the cooperation of investigators, patient and funding agencies can propel the research agenda of finding new treatments for rare diseases. This proposed meeting is the third in a sequence of three planned international meetings discussing the key aspects of achieving the goals of CINCH. The first two meetings """"""""Pathogenesis and treatment of the Periodic Paralyses"""""""" and """"""""International Conference on Episodic Ataxia Syndromes"""""""" were extremely valuable in stimulating discussion and collaborations.
The aims of the proposed meeting are: (1) to summarize the current understanding of the pathophysiology of NDM and focus on unresolved dilemmas concerning their pathogenesis; (2) to consider both the rationale and implementation of various treatment strategies; (3) and consider how what is learned about NDM can inform the broader field of channelopathy research; (4) to develop 2 publications based on meeting presentations, discussions and conclusions that will both inform and catalyze the research communities interested in NDM and other neurological channelopathies. ? ? ?
| Tan, S Veronica; Z'Graggen, Werner J; Hanna, Michael G et al. (2018) In vivo assessment of muscle membrane properties in the sodium channel myotonias. Muscle Nerve 57:586-594 |
| Tan, S Veronica; Z'graggen, Werner J; Boërio, Delphine et al. (2016) In vivo assessment of muscle membrane properties in myotonic dystrophy. Muscle Nerve 54:249-57 |
| Tan, S Veronica; Z'Graggen, Werner J; Boërio, Delphine et al. (2014) Chloride channels in myotonia congenita assessed by velocity recovery cycles. Muscle Nerve 49:845-57 |
| Tan, S Veronica; Z'graggen, Werner J; Boërio, Delphine et al. (2012) Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve 46:193-203 |
| Tan, S Veronica; Matthews, Emma; Barber, Melissa et al. (2011) Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. Ann Neurol 69:328-40 |
| Matthews, E; Fialho, D; Tan, S V et al. (2010) The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 133:9-22 |
