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ek, MD
From the Departments of Neurology (Drs. Swoboda, Bale, and Ptáek), Human Genetics (Drs. Swoboda, Leppert, and Ptáek), Pediatrics (Drs. Swoboda and Bale), and the Howard Hughes Medical Institute (C. McKenna and Dr. Ptáek), University of Utah School of Medicine, Salt Lake City; the Department of Neurology (Dr. Soong), National Yang Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taiwan; the Department of Neurology (Dr. Brunt), University Hospital Groningen, the Netherlands; the Department of Molecular and Medical Genetics (Dr. Litt), Oregon Health Sciences University, Portland; Department of Neurology, Baylor College of Medicine (Drs. Ashizawa and Jankovic), and Veterans Affairs Medical Center (Dr. Matsuura), Houston, TX; the Department of Genetics (Drs. Bennett and Bowcock), Washington University School of Medicine, St. Louis, MO; the Department of Neurology (Dr. Roach), University of Texas Southwestern Medical Center, Dallas; Brown University (D. Gerson), Providence, RI; Department of Pediatrics (Dr. Heydemann), Division of Neurology, Rush Presbyterian St. Luke’s Medical Center, Chicago, IL; and the Pediatric Neurology Division (Dr. Nespeca), Children’s Associated Medical Group, San Diego, CA.
Address correspondence and reprint requests to Dr. Kathryn J. Swoboda, University of Utah School of Medicine, Department of Neurology, Room 3R210, 50 North Medical Drive, Salt Lake City, UT 84132; e-mail: Swoboda{at}howard.genetics.utah.edu
OBJECTIVE: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus.
BACKGROUND: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified.
METHODS: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members.
RESULTS: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at 
= 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity.
CONCLUSIONS: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.
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