Paroxysmal kinesigenic dyskinesia and infantile convulsions Clinical and linkage studies

摘要: Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing response sudden movement, stress, excitement. Recently, an autosomal dominant locus on was identified. Methods: The authors studied 11 previously unreported diverse ethnic background without convulsions performed analysis markers spanning Detailed clinical questionnaires interviews were conducted unaffected family members. Results: Clinical characterization sampling 95 revealed 44 dyskinesia, both. Infantile surprisingly common, occurring 9 families. In only two did generalized seizures occur later childhood adulthood. defined 26-cM region using data (maximum lod score 6.63 at θ = 0). Affected one showed no evidence for shared haplotype this region, implying heterogeneity. Conclusions: Identification PKD/infantile gene will provide new insight into pathophysiology disorder, which spans phenotypic spectrum between epilepsy disorder.