-
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
-
-
0030766418
-
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. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-898.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
Piussan, C.4
Lathrop, G.M.5
Monaco, A.P.6
-
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
-
-
82355181881
-
Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion
-
Dale RC, Grattan-Smith P, Fung VS, Peters GB. Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology 2011;77:1401-1402.
-
(2011)
Neurology
, vol.77
, pp. 1401-1402
-
-
Dale, R.C.1
Grattan-Smith, P.2
Fung, V.S.3
Peters, G.B.4
-
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;134:3493-3501.
-
(2011)
Brain
, vol.134
, pp. 3493-3501
-
-
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
-
-
84855827661
-
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
-
Heron SE, Grinton BE, Kivita S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-160.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 152-160
-
-
Heron, S.E.1
Grinton, B.E.2
Kivita, S.3
-
9
-
-
84856144700
-
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
-
Lee H. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 2011;1:2-12.
-
(2011)
Cell Reports
, vol.1
, pp. 2-12
-
-
Lee, H.1
-
10
-
-
84862912899
-
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variabilita in clinical expression
-
Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variabilita in clinical expression. J Med Genet 2012;49:79-82.
-
(2012)
J Med Genet
, vol.49
, pp. 79-82
-
-
Liu, Q.1
Qi, Z.2
Wan, X.H.3
-
11
-
-
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
-
12
-
-
18744402265
-
Genetic and clinical heterogeneita in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
-
Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneita 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
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