| 1 | PRRT2
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| Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
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| Valente P, Romei A, Fadda M, Sterlini B, Lonardoni D, Forte N, Fruscione F, Castroflorio E, Michetti C, Giansante G, Valtorta F, Tsai JW, Zara F, Nieus T, Corradi A, Fassio A, Baldelli P, Benfenati F.
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| Cereb Cortex ereb Cortex. 2018 Apr 18. doi: 10.1093/cercor/bhy079. [Epub ahead of print]
2018
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| 2 | PRRT2
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| PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
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| Coleman J, Jouannot O, Ramakrishnan SK, Zanetti MN, Wang J, Salpietro V, Houlden H, Rothman JE, Krishnakumar SS.
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| Cell Rep 22(3):820-831. doi: 10.1016/j.celrep.2017.12.056.
2018
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| 3 | BFIS2, PRRT2
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| Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.
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| Vlachou V, Chu V, Pavlidou E, Ismayilova N, Kshitij M, Kinali M.
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| Indian J Pediatr ndian J Pediatr. 2017 Dec 18. doi: 10.1007/s12098-017-2568-x. [Epub ahead of print] No abstract available.
2017
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| 4 | PRRT2
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| PRRT2 inhibits the proliferation of glioma cells by modulating unfolded protein response pathway.
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| Bi G, Yan J, Sun S, Qu X.
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| Biochem Biophys Res Commun 485(2):454-460. doi: 10.1016/j.bbrc.2017.02.052. Epub 2017 Feb 10.
2017
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| 5 | PRRT2
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| A mononucleotide repeat in PRRT2 is an important, frequent target of mismatch repair deficiency in cancer.
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| Alves IT, Cano D, Böttcher R, van der Korput H, Dinjens W, Jenster G, Trapman J.
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| Oncotarget 8(4):6043-6056. doi: 10.18632/oncotarget.13464.
2017
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| 6 | EIEE37, FRRS1L, GRIA1, PRRT2
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| Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
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| Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.
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| Am J Hum Genet 98(6):1249-55. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. 2016
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| 7 | ADCY5, DYT10, DYT10, DYT8, FDFM, GCH1, PNKD, PRRT2
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| Paroxysmal movement disorders: An update.
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| Méneret A, Roze E.
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| Rev Neurol (Paris) 172(8-9):433-445. doi: 10.1016/j.neurol.2016.07.005.
2016
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| 8 | PRRT2
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| PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
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| Liu YT, Nian FS, Chou WJ, Tai CY, Kwan SY, Chen C, Kuo PW, Lin PH, Chen CY, Huang CW, Lee YC, Soong BW, Tsai JW.
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| Oncotarget 7(26):39184-39196. doi: 10.18632/oncotarget.9258.
2016
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| 9 | DYT10, DYT69, DYT8, PNKD, PRRT2, SLC2A1
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| The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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| Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H.
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| Brain 138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Review.
2015
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| 10 | PRRT2
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| PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.
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| Nobile C, Striano P.
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| Prog Brain Res 213:141-58. doi: 10.1016/B978-0-444-63326-2.00008-9. Review.
2014
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| 11 | EKD, PRRT2
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| Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
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| Tan LC, Methawasin K, Teng EW, Ng AR, Seah SH, Au WL, Liu JJ, Foo JN, Zhao Y, Tan EK.
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| Eur J Neurol 21(4):674-8. doi: 10.1111/ene.12142. Epub 2013 Mar 29.
2014
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| 12 | PRRT2
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| Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
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| Heron SE, Dibbens LM.
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| J Med Genet 50(3):133-9. doi: 10.1136/jmedgenet-2012-101406. Epub 2013 Jan 23. Review.
2013
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| 13 | EKD1, PRRT2
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| Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
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| Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y.
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| J Med Genet 49(2):76-8. Epub 2011 Nov 30.
2012
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| 14 | EKD1, PRRT2
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| Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
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| Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X.
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| J Med Genet 49(2):79-82. Epub 2011 Dec 29.
2012
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| 15 | BFIS2, EKD1, ICCA, PRRT2
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| PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome.
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| Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.
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| Am J Hum Genet 90(1):152-60. 2012
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| 16 | BFIS2, PRRT2
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| PRRT2 mutations are the major cause of benign familial infantile seizures.
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| Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG.
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| Hum Mutat 33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11.
2012
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| 17 | EKD1, PRRT2
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| Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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| Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY.
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| Nat Genet 43(12):1252-5. doi: 10.1038/ng.1008.
2011
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| 18 | EKD1, PRRT2
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| Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
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| Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS.
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| Brain 134(Pt 12):3493-3501. Epub 2011 Nov 26.
2011
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