-
1
-
-
19944402859
-
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
-
Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280-2287.
-
(2004)
Neurology
, vol.63
, pp. 2280-2287
-
-
Bruno, M.K.1
Hallett, M.2
Gwinn-Hardy, K.3
-
2
-
-
0034111168
-
Episodic movement disorders as channelopathies
-
Bhatia KP, Griggs RC, Ptacek L. Episodic movement disorders as channelopathies. Mov Disord 2000; 15: 429-433.
-
(2000)
Mov Disord
, vol.15
, pp. 429-433
-
-
Bhatia, K.P.1
Griggs, R.C.2
Ptacek, L.3
-
3
-
-
33947620465
-
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, et al. 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. J Hum Genet 2007; 52: 334-341.
-
(2007)
J Hum Genet
, vol.52
, pp. 334-341
-
-
Kikuchi, T.1
Nomura, M.2
Tomita, H.3
-
4
-
-
84856144700
-
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
-
Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 2012; 1: 2-12.
-
(2012)
Cell Reports
, vol.1
, pp. 2-12
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
-
5
-
-
82255186531
-
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
-
Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43: 1252-1255.
-
(2011)
Nat Genet
, vol.43
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
-
6
-
-
83755205987
-
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
-
Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011; 134: 3490-3498.
-
(2011)
Brain
, vol.134
, pp. 3490-3498
-
-
Wang, J.L.1
Cao, L.2
Li, X.H.3
-
7
-
-
84862776732
-
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
-
Li J, Zhu X, Wang X, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012; 49: 76-78.
-
(2012)
J Med Genet
, vol.49
, pp. 76-78
-
-
Li, J.1
Zhu, X.2
Wang, X.3
-
8
-
-
0033775093
-
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, et al. 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. Brain 2000; 123: 2040-2045.
-
(2000)
Brain
, vol.123
, pp. 2040-2045
-
-
Valente, E.M.1
Spacey, S.D.2
Wali, G.M.3
-
9
-
-
18744402265
-
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
-
Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002; 17: 717-725.
-
(2002)
Mov Disord
, vol.17
, pp. 717-725
-
-
Spacey, S.D.1
Valente, E.M.2
Wali, G.M.3
|