title: Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
abstract: PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. The index patient's father had PKD and migraine with aphasia, and his two brothers had hemiplegic migraine with onset in childhood. All four family members had the same PRRT2 c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine.
authors: Movement Disorder Clinic, Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, NSW, Australia. russell.dale@health.nsw.gov.au
authors: Russell C
authors: RC
authors: Dale
authors: Alice
authors: A
authors: Gardiner
authors: Jayne
authors: J
authors: Antony
authors: Henry
authors: H
authors: Houlden
mesh_terms: D000328:Adult; D000483:Alleles; D002675:Child, Preschool; D058674:Chromosome Duplication; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020325:Migraine with Aura / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human