Katherine Mackenzie
Stanford University, USA
Posters & Accepted Abstracts: J Neurol Neurophysiol
With the increased availability of genetic testing and the expansion of pediatric movement disorders specialty centers, our understanding and differentiation of paroxysmal movement disorders has significantly improved. Fundamental to the evaluation of these patients is the accurate identification and characterization of movements as dystonia, chorea, myoclonus, tremor or ataxia. The next step involves categorizing the movements as primarily kinesigenic, non-kinesigenic, or exercise-induced. Subsequently, targeted genetic testing may be used to identify the specific mutation associated with patientâ??s symptoms. Mutations known to be associated with paroxysmal movement disorders include, PRRT2, SLC2A1, KCNA1, CACNA1A, PNKD, ATP1A3, and ADCY5. However, genetic mutations more commonly associated with epileptic encephalopathy syndromes, such as SCL13A5, TBC1D24, and SCN8A, have also recently been found in patients with paroxysmal movement symptoms. The main objective of this presentation is to enhance the identification, assessment and treatment of these paroxysmal movement disorders for the general neurologist.
E-mail: ktmack@stanford.edu
