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Results: 11

1.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, 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 BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ.

Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15.

PMID:
22832103
[PubMed - indexed for MEDLINE]
Free Article
2.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

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.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

PMID:
22243967
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

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.

J Med Genet. 2012 Feb;49(2):76-8. doi: 10.1136/jmedgenet-2011-100635. Epub 2011 Nov 30.

PMID:
22131361
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
22120146
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

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.

Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.

PMID:
22101681
[PubMed - indexed for MEDLINE]
7.

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

Dale RC, Grattan-Smith P, Fung VS, Peters GB.

Neurology. 2011 Oct 4;77(14):1401-2. doi: 10.1212/WNL.0b013e31823152d7. Epub 2011 Sep 21. No abstract available.

PMID:
21940615
[PubMed - indexed for MEDLINE]
8.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child.

Lipton J, Rivkin MJ.

Neurology. 2009 Aug 11;73(6):479-80. doi: 10.1212/WNL.0b013e3181b16393. No abstract available.

PMID:
19667324
[PubMed - indexed for MEDLINE]
10.

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ.

Neurology. 2004 Dec 28;63(12):2280-7. Review.

PMID:
15623687
[PubMed - indexed for MEDLINE]
11.

The human genome browser at UCSC.

Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D.

Genome Res. 2002 Jun;12(6):996-1006.

PMID:
12045153
[PubMed - indexed for MEDLINE]
Free PMC Article

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