223 related articles for article (PubMed ID: 10577923)
1. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
Tomita Ha; Nagamitsu S; Wakui K; Fukushima Y; Yamada K; Sadamatsu M; Masui A; Konishi T; Matsuishi T; Aihara M; Shimizu K; Hashimoto K; Mineta M; Matsushima M; Tsujita T; Saito M; Tanaka H; Tsuji S; Takagi T; Nakamura Y; Nanko S; Kato N; Nakane Y; Niikawa N
Am J Hum Genet; 1999 Dec; 65(6):1688-97. PubMed ID: 10577923
[TBL] [Abstract][Full Text] [Related]
2. Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families.
Wang X; Sun W; Zhu X; Li L; Du T; Mao W; Wu X; Wei H; Zhu S; Sun Y; Liu Y; Niu N; Wang Y; Liu Y
Eur J Neurol; 2010 Jun; 17(6):800-7. PubMed ID: 20158512
[TBL] [Abstract][Full Text] [Related]
3. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.
Valente EM; Spacey SD; Wali GM; Bhatia KP; Dixon PH; Wood NW; Davis MB
Brain; 2000 Oct; 123 ( Pt 10)():2040-5. PubMed ID: 11004121
[TBL] [Abstract][Full Text] [Related]
4. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
Swoboda KJ; Soong B; McKenna C; Brunt ER; Litt M; Bale JF; Ashizawa T; Bennett LB; Bowcock AM; Roach ES; Gerson D; Matsuura T; Heydemann PT; Nespeca MP; Jankovic J; Leppert M; Ptácek LJ
Neurology; 2000 Jul; 55(2):224-30. PubMed ID: 10908896
[TBL] [Abstract][Full Text] [Related]
5. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
Bennett LB; Roach ES; Bowcock AM
Neurology; 2000 Jan; 54(1):125-30. PubMed ID: 10636137
[TBL] [Abstract][Full Text] [Related]
6. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
Demir E; Prud'homme JF; Topçu M
Pediatr Neurol; 2004 May; 30(5):349-53. PubMed ID: 15165638
[TBL] [Abstract][Full Text] [Related]
7. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.
Cuenca-Leon E; Cormand B; Thomson T; Macaya A
Neuropediatrics; 2002 Dec; 33(6):288-93. PubMed ID: 12571782
[TBL] [Abstract][Full Text] [Related]
8. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
Caraballo R; Pavek S; Lemainque A; Gastaldi M; Echenne B; Motte J; Genton P; Cersósimo R; Humbertclaude V; Fejerman N; Monaco AP; Lathrop MG; Rochette J; Szepetowski P
Am J Hum Genet; 2001 Mar; 68(3):788-94. PubMed ID: 11179027
[TBL] [Abstract][Full Text] [Related]
9. Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
Du T; Feng B; Wang X; Mao W; Zhu X; Li L; Sun B; Niu N; Liu Y; Wang Y; Chen B; Cai X; Liu Y
J Mol Neurosci; 2008 Feb; 34(2):101-7. PubMed ID: 17952630
[TBL] [Abstract][Full Text] [Related]
10. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
Lee WL; Tay A; Ong HT; Goh LM; Monaco AP; Szepetowski P
Hum Genet; 1998 Nov; 103(5):608-12. PubMed ID: 9860304
[TBL] [Abstract][Full Text] [Related]
11. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
Szepetowski P; Rochette J; Berquin P; Piussan C; Lathrop GM; Monaco AP
Am J Hum Genet; 1997 Oct; 61(4):889-98. PubMed ID: 9382100
[TBL] [Abstract][Full Text] [Related]
12. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Kikuchi T; Nomura M; Tomita H; Harada N; Kanai K; Konishi T; Yasuda A; Matsuura M; Kato N; Yoshiura KI; Niikawa N
J Hum Genet; 2007; 52(4):334-341. PubMed ID: 17387577
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22120146
[TBL] [Abstract][Full Text] [Related]
14. Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
Guerrini R; Parmeggiani L; Bonanni P; Carrozzo R; Casari G
Neurology; 2000 Sep; 55(5):738-9. PubMed ID: 10980756
[No Abstract] [Full Text] [Related]
15. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
Rochette J; Roll P; Fu YH; Lemoing AG; Royer B; Roubertie A; Berquin P; Motte J; Wong SW; Hunter A; Robaglia-Schlupp A; Ptacek LJ; Szepetowski P
Epileptic Disord; 2010 Sep; 12(3):199-204. PubMed ID: 20716510
[TBL] [Abstract][Full Text] [Related]
16. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions.
Kato N; Sadamatsu M; Kikuchi T; Niikawa N; Fukuyama Y
Epilepsy Res; 2006 Aug; 70 Suppl 1():S174-84. PubMed ID: 16901678
[TBL] [Abstract][Full Text] [Related]
17. Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG; Berger A; Bebek N; Maier S; Karafyllakes S; Meyer N; Fukuyama Y; Halbach A; Hikel C; Kurlemann G; Neubauer B; Osawa M; Püst B; Rating D; Saito K; Stephani U; Tauer U; Lehmann-Horn F; Jurkat-Rott K; Lerche H
Epilepsia; 2004 Jun; 45(6):601-9. PubMed ID: 15144424
[TBL] [Abstract][Full Text] [Related]
18. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Spacey SD; Valente EM; Wali GM; Warner TT; Jarman PR; Schapira AH; Dixon PH; Davis MB; Bhatia KP; Wood NW
Mov Disord; 2002 Jul; 17(4):717-25. PubMed ID: 12210861
[TBL] [Abstract][Full Text] [Related]
19. Idiopathic epilepsy and paroxysmal dyskinesia.
Guerrini R
Epilepsia; 2001; 42 Suppl 3():36-41. PubMed ID: 11520321
[TBL] [Abstract][Full Text] [Related]
20. Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.
Stibůrková B; Majewski J; Sebesta I; Zhang W; Ott J; Kmoch S
Am J Hum Genet; 2000 Jun; 66(6):1989-94. PubMed ID: 10780922
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]