Early Onset Paroxysmal Dyskinesia in PRRT2‐Related Disorders

Movement Disorders Clinical PracticeVolume 10, Issue 4 p. 701-703 LETTERS: GENOTYPE AND PHENOTYPE Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders Ylenia Vaia MD, Ylenia Vaia MD University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorRoberto Previtali MD, Roberto Previtali MD orcid.org/0000-0002-3295-0655 University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorSara Malgesini MD, Sara Malgesini MD Maggiore Hospital of Lodi, Pediatric Neuropsychiatry Unit, Lodi, ItalySearch for more papers by this authorAnna Patanè Biol., Anna Patanè Biol. R&I Genetics SRL, Padua, ItalySearch for more papers by this authorSilvia Masnada MD, PhD, Silvia Masnada MD, PhD Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorMonica Anna Maria Lodi MD, Monica Anna Maria Lodi MD Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorPierangelo Veggiotti MD, PhD, Pierangelo Veggiotti MD, PhD University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorDavide Tonduti MD, PhD, Corresponding Author Davide Tonduti MD, PhD [email protected] University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, Italy Correspondence to: Dr. Davide Tonduti, V. Buzzi Children's Hospital, Via Castelvetro 32, 20154 Milan, Italy; E-mail: [email protected]Search for more papers by this author Ylenia Vaia MD, Ylenia Vaia MD University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorRoberto Previtali MD, Roberto Previtali MD orcid.org/0000-0002-3295-0655 University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorSara Malgesini MD, Sara Malgesini MD Maggiore Hospital of Lodi, Pediatric Neuropsychiatry Unit, Lodi, ItalySearch for more papers by this authorAnna Patanè Biol., Anna Patanè Biol. R&I Genetics SRL, Padua, ItalySearch for more papers by this authorSilvia Masnada MD, PhD, Silvia Masnada MD, PhD Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorMonica Anna Maria Lodi MD, Monica Anna Maria Lodi MD Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorPierangelo Veggiotti MD, PhD, Pierangelo Veggiotti MD, PhD University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, ItalySearch for more papers by this authorDavide Tonduti MD, PhD, Corresponding Author Davide Tonduti MD, PhD [email protected] University of Milan, Milan, Italy Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, Italy Correspondence to: Dr. Davide Tonduti, V. Buzzi Children's Hospital, Via Castelvetro 32, 20154 Milan, Italy; E-mail: [email protected]Search for more papers by this author First published: 29 January 2023 https://doi.org/10.1002/mdc3.13674Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA. The expanding spectrum of movement disorders in genetic epilepsies. Dev Med Child Neurol 2020; 62(2): 178–191. 2Garone G, Capuano A, Travaglini L, et al. Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias. Int J Mol Sci 2020; 21(10). 3Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE. Child neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology 2014; 83(18): 1680–1683. 4Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012; 49(2): 79–82. 5Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012; 79(21): 2115–2121. 6Delcourt M, Riant F, Mancini J, et al. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. J Neurol Neurosurg Psychiatry 2015; 86(7): 782–785. 7Numoto S, Kurahashi H, Takagi M, Azuma Y, Iwayama H, Okumura A. Sodium channel blockers are effective for benign infantile epilepsy. Seizure 2021; 92: 207–210. 8Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015; 138(Pt 12): 3476–3495. 9Okumura A, Shimojima K, Kurahashi H, et al. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. Seizure 2019; 71: 1–5. 10Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria. Neurology 2004; 63(12): 2280–2287. 11Aj F, T M, C I, et al. Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases. Neurogenetics 2021; 22(3): 171–185. Volume10, Issue4April 2023Pages 701-703 ReferencesRelatedInformation