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• W2115333659 abstract "Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD." @default.
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• W2115333659 date "2012-06-01" @default.
• W2115333659 modified "2023-09-23" @default.
• W2115333659 title "Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin" @default.
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• W2115333659 doi "https://doi.org/10.1016/j.parkreldis.2012.03.006" @default.
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