title: Re-evaluation of PRRT2 mutations in paroxysmal disorders.
abstract: Mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Other paroxysmal disorders like febrile seizures, migraine, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia have also been shown to be associated with this gene. We re-evaluated PRRT2 mutations and genetic-clinical correlations in additional cases with PKD/ICCA and other paroxysmal disorders. Two novel mutations in PRRT2 were revealed in PKD/ICCA cases, while no mutations were detected in other diseases, which suggests BFIE and PKD are still core phenotypes of PRRT2-related spectrum disorders.
authors.affiliation: Laboratory of Clinical Genetics, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China.
authors.forename: Xia Nan
authors.initials: XN
authors.lastname: Guo
authors.forename: Qiang
authors.initials: Q
authors.lastname: Lu
authors.forename: Xiang Qin
authors.initials: XQ
authors.lastname: Zhou
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
mesh_terms: D000293:Adolescent; D000328:Adult; D002819:Chorea / Q000175:diagnosis* / Q000235:genetics*; D020820:Dyskinesias / Q000175:diagnosis* / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human