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Items: 1 to 20 of 101

1.

[An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures].

Tanabe Y, Taira T, Shimotake A, Inoue T, Awaya T, Kato T, Kuzuya A, Ikeda A, Takahashi R.

Rinsho Shinkeigaku. 2019 Mar 28;59(3):144-148. doi: 10.5692/clinicalneurol.cn-001228. Epub 2019 Feb 28. Japanese.

PMID:
30814447
2.

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C.

Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23. Review.

PMID:
26598493
3.

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.

Zhao G, Liu X, Zhang Q, Wang K.

Int J Neurosci. 2018 Aug;128(8):751-760. doi: 10.1080/00207454.2017.1418345. Epub 2018 Jan 7. Review.

PMID:
29285950
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.

A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy.

Matsushita HB, Okano S, Ishii A, Hirose S.

No To Hattatsu. 2016 Sep;48(5):351-4. Japanese.

PMID:
30010281
6.

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

Torisu H, Watanabe K, Shimojima K, Sugawara M, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T.

Brain Dev. 2014 Apr;36(4):342-5. doi: 10.1016/j.braindev.2013.05.009. Epub 2013 Jun 12.

PMID:
23768507
7.

A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Kita M, Kuwata Y, Murase N, Akiyama Y, Usui T.

Mov Disord Clin Pract. 2017 May 23;4(4):625-628. doi: 10.1002/mdc3.12500. eCollection 2017 Jul-Aug.

8.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG.

Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.

PMID:
26677014
9.

Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation.

Chou IC, Lin SS, Lin WD, Wang CH, Chang YT, Tsai FJ, Tsai CH.

Biomedicine (Taipei). 2014;4:15. Epub 2014 May 8.

10.

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

Fabbri M, Marini C, Bisulli F, Di Vito L, Elia A, Guerrini R, Mei D, Tinuper P.

Epileptic Disord. 2013 Jun;15(2):123-7. doi: 10.1684/epd.2013.0569.

11.

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats.

Mo J, Wang B, Zhu X, Wu X, Liu Y.

Neurobiol Dis. 2019 Jan;121:274-285. doi: 10.1016/j.nbd.2018.10.011. Epub 2018 Oct 19.

PMID:
30347267
12.

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.

Lu JG, Bishop J, Cheyette S, Zhulin IB, Guo S, Sobreira N, Brenner SE.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002287. doi: 10.1101/mcs.a002287. Print 2018 Feb.

13.

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.

14.

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.

Seo SY, You SJ.

Korean J Pediatr. 2016 Nov;59(Suppl 1):S157-S160. doi: 10.3345/kjp.2016.59.11.S157. Epub 2016 Nov 30.

15.

Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Youn J, Kim JS, Lee M, Lee J, Roh H, Ki CS, Choa JW.

J Clin Neurol. 2014 Jan;10(1):50-4. doi: 10.3988/jcn.2014.10.1.50. Epub 2014 Jan 6.

16.

[Familial paroxysmal kinesigenic dyskinesia. A case description].

Extreia J, Monteiro I, Ferreira A, Rocha S.

An Pediatr (Barc). 2015 Jan;82(1):e154-7. doi: 10.1016/j.anpedi.2014.07.020. Epub 2014 Sep 7. Spanish.

17.

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

Zhang LM, An Y, Pan G, Ding YF, Zhou YF, Yao YH, Wu BL, Zhou SZ.

J Child Neurol. 2015 Sep;30(10):1263-9. doi: 10.1177/0883073814556887. Epub 2014 Nov 17.

PMID:
25403460
18.

Epilepsy or paroxysmal kinesigenic choreoathetosis?

Beaumanoir A, Mira L, van Lierde A.

Brain Dev. 1996 Mar-Apr;18(2):139-41.

PMID:
8733907
19.

PRRT2-Associated Paroxysmal Movement Disorders.

Ebrahimi-Fakhari D, Moufawad El Achkar C, Klein C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Jan 11.

20.

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

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