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Items: 1 to 20 of 210

1.

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

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.

J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. Erratum in: J Hum Genet. 2012 Jun;57(6):399.

PMID:
22399141
2.

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.

van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, Boon M, Samijn J, Diderich K, van de Laar I, Oostra B, Bonifati V, Maat-Kievit A.

Neurology. 2012 Aug 21;79(8):777-84. doi: 10.1212/WNL.0b013e3182661fe3. Epub 2012 Aug 8.

PMID:
22875091
3.

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X.

BMC Neurol. 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209.

4.

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.

Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS.

Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26.

PMID:
23896529
5.

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

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, Billette de Villemeur T, Vidailhet M, Brice A, Roze E.

Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.

PMID:
22744660
6.

PRRT2 mutation causes benign familial infantile convulsions.

de Vries B, Callenbach PM, Kamphorst JT, Weller CM, Koelewijn SC, ten Houten R, de Coo IF, Brouwer OF, van den Maagdenberg AM.

Neurology. 2012 Nov 20;79(21):2154-5. doi: 10.1212/WNL.0b013e3182752c30. Epub 2012 Oct 17.

PMID:
23077019
7.

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG.

J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. Review.

PMID:
23299620
8.

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.

Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Liao WP.

Genes Brain Behav. 2013 Mar;12(2):234-40. doi: 10.1111/gbb.12008. Epub 2012 Dec 21.

9.

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F.

Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17.

PMID:
22902423
10.

PRRT2 mutation in Japanese children with benign infantile epilepsy.

Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T.

Brain Dev. 2013 Aug;35(7):641-6. doi: 10.1016/j.braindev.2012.09.015. Epub 2012 Nov 3.

PMID:
23131349
11.

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

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.

J Med Genet. 2012 Feb;49(2):79-82. doi: 10.1136/jmedgenet-2011-100653. Epub 2011 Dec 29.

PMID:
22209761
12.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

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.

Brain. 2011 Dec;134(Pt 12):3493-3501. doi: 10.1093/brain/awr289. Epub 2011 Nov 26.

13.

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Heron SE, Dibbens LM.

J Med Genet. 2013 Mar;50(3):133-9. doi: 10.1136/jmedgenet-2012-101406. Epub 2013 Jan 23. Review.

PMID:
23343561
14.

The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.

Steinlein OK, Villain M, Korenke C.

Seizure. 2012 Nov;21(9):740-2. doi: 10.1016/j.seizure.2012.07.006. Epub 2012 Aug 9.

15.

[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Zhang X, Liu X, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):679-85. doi: 10.3760/cma.j.issn.1003-9406.2014.06.001. Chinese.

PMID:
25449067
16.

Re-evaluation of PRRT2 mutations in paroxysmal disorders.

Guo XN, Lu Q, Zhou XQ, Liu Q, Zhang X, Cui LY.

J Neurol. 2014 May;261(5):951-3. doi: 10.1007/s00415-014-7305-z. Epub 2014 Mar 9.

PMID:
24609974
17.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S.

Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13.

PMID:
23073245
18.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P.

Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17.

19.

Unusual variability of PRRT2 linked phenotypes within a family.

Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E.

Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.

PMID:
24755245
20.

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.

Wu L, Tang HD, Huang XJ, Zheng L, Liu XL, Wang T, Wang JY, Cao L, Chen SD.

Parkinsonism Relat Disord. 2014 Dec;20(12):1399-404. doi: 10.1016/j.parkreldis.2014.10.012. Epub 2014 Oct 19.

PMID:
25457817

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