Bruno MK, Hallett M, Hardy KG, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner, Fu YH, Ptacek LJ(2004) Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 63:2280-2287.
Dale RC, Gardiner A, Antony J, Houlden H(2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 54:958-960.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Portes VD, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Amrathlal RS, Rochette J, Roubertie A(2015) Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. J Neurol Neurosurg Psychiatry 86:782-785.
Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C(2015) The evolving spectrumof PRRT2-associated paroxysmal diseases. Brain 138:3476-3495.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HAG, Raskin S, Sander GW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H(2012) PRRT2 mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012:2115-2121.
Lee H, Huang Y, Bruneau N, Roll P, Roberson EDO, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong B, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ(2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 1:2-12.
Li HF, Chen WJ, Ni W, Wang KY, Liu GL, Wang N, Xiong ZQ, Xu J, Wu ZY(2013) PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology 2013;80: 1534-1535.
Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou X, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X(2012) Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 49:79-82.
Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li LB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi TH, Tang BS, Liao WP(2013) Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 12: 234-240.
Marini C, Conti V, Mei D, Battaglia D, Lettori D, Losito E, Bruccini G, Tortorella G, Guerrini R(2012) PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 79:2109-2114.
Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Villemeur TB, Vidailhet M, Brice A, Roze E(2012) PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.Neurology 79:170-174.
Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N(2012) Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 57:338-341.
Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E(2012) PRRT2 mutations cause hemiplegic migraine. Neurology 79:2122-2124.
Richards S, Aziz N,Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL(2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med 17:405-424.
Silveira-Moriyama L, Gardiner AR, Meyer E, King MD, Smith M, Rakshi K, Parker A, Mallick AA, Brown R, Vassallo G, Jardine PE, Guerreiro MM, Lees AJ, Houlden H, Kurian MA(2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol 55:327-334.
Termsarasab P, Yang AC, Reiner J, Mei H, Scott SA, Frucht SJ(2014). Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. Tremor Other Hyperkinet Mov (N Y) 4:274
Tong W, Wang Y, Lu Y, Ye T, Song C, Xu Y, Li M, Ding J, Duan Y, Zhang L, Gu Y, Zhao X, Yang X, Jin D(2018) Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. Sci Rep 8:5214.
Vigevano F(2005)Benign familial infantile seizures. Brain Dev 27:172-177.
Wang JL, Mao X, Hu ZM, Li JD, Guo GF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tan BS(2013) Mutation analysis of PRRT2 in two Chinese BFEIS families and nomenclature of PRRT2 related paroxysmal diseases. Neurosci Lett 27:40-45.
Wang K, Zhao X, Du Y, He F, Peng G, Luo B(2013) Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. Brain Dev 35:664-666.
Weber X, Köhler A, Hahn A, Neubauer B, Müller U(2013) Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. Neurogenetics
14:251-253.
Wood H(2012)Genetics: expanding the spectrum of neurological disorders associated with PRRT2 mutations. Nat Rev Neurol 8:657.