-
1
-
-
0033044546
-
Paroxysmal inesigenic choreoathetosis: A report of 26 patients
-
Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal inesigenic choreoathetosis: a report of 26 patients. J Neurol 1999; 246:120-26.
-
(1999)
J Neurol
, vol.246
, pp. 120-126
-
-
Houser, M.K.1
Soland, V.L.2
Bhatia, K.P.3
Quinn, N.P.4
Marsden, C.D.5
-
2
-
-
0029091303
-
Paroxysmal dyskinesias: Clinical features and classification
-
Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38:571-79.
-
(1995)
Ann Neurol
, vol.38
, pp. 571-579
-
-
Demirkiran, M.1
Jankovic, J.2
-
3
-
-
0032941645
-
The paroxysmal dyskinesias
-
Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999; 246:149-55.
-
(1999)
J Neurol
, vol.246
, pp. 149-155
-
-
Bhatia, K.P.1
-
4
-
-
0033435219
-
Multicenter study of paroxysmal dyskinesias in Japan: Clinical and pedigree analysis
-
Nagamitsu S, Matsuishi T, Hashimoto K, et al. Multicenter study of paroxysmal dyskinesias in Japan: clinical and pedigree analysis. Mov Disord 1999; 4:658-63.
-
(1999)
Mov Disord
, vol.4
, pp. 658-663
-
-
Nagamitsu, S.1
Matsuishi, T.2
Hashimoto, K.3
-
5
-
-
0038288675
-
Paroxysmal yskinesias in childhood
-
Zorzi G, Conti C, Erba A, Granata T, Angelini L, Nardocci N. Paroxysmal yskinesias in childhood. Pediatr Neurol 2003; 28:168-72.
-
(2003)
Pediatr Neurol
, vol.28
, pp. 168-172
-
-
Zorzi, G.1
Conti, C.2
Erba, A.3
Granata, T.4
Angelini, L.5
Nardocci, N.6
-
6
-
-
0031767257
-
Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia
-
Hwang WJ, Lu CS, Tsai JJ. Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia. Acta Neurol Scand 1998; 98:340-45.
-
(1998)
Acta Neurol Scand
, vol.98
, pp. 340-345
-
-
Hwang, W.J.1
Lu, C.S.2
Tsai, J.J.3
-
7
-
-
0036205192
-
Relationship between paroxysmal kinesigenic choreoathetosis and epilepsy
-
Ohmori I, Ohtsuka Y, Ogino T, Yoshinaga H, Kobayashi K, Oka E. Relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. Neuropediatrics 2002; 33:15-20.
-
(2002)
Neuropediatrics
, vol.33
, pp. 15-20
-
-
Ohmori, I.1
Ohtsuka, Y.2
Ogino, T.3
Yoshinaga, H.4
Kobayashi, K.5
Oka, E.6
-
8
-
-
0031786885
-
Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy
-
Tan LC, Tan AK, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1998; 100:187-92.
-
(1998)
Clin Neurol Neurosurg
, vol.100
, pp. 187-192
-
-
Tan, L.C.1
Tan, A.K.2
Tjia, H.3
-
9
-
-
0026001762
-
Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks
-
Hirata K, Katayama S, Saito T, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991; 32:492-94.
-
(1991)
Epilepsia
, vol.32
, pp. 492-494
-
-
Hirata, K.1
Katayama, S.2
Saito, T.3
-
10
-
-
0343488504
-
Channelopathies: Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
-
Ptacek LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromuscul Disord 1997; 7: 250-55.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 250-255
-
-
Ptacek, L.J.1
-
11
-
-
82255186531
-
Exome sequencing dentifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic yskinesia
-
Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, et al. Exome sequencing dentifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic yskinesia. Nat Genet 2011; 43: 1252-55.
-
(2011)
Nat Genet
, vol.43
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
Wei, W.4
Ni, W.5
-
12
-
-
84939160091
-
Identification of PRRT2 asthe causative gene of paroxysmal kinesigenic dyskinesias
-
Wang JL, Cao L, Li XH, Hu ZM, Li JD, et al. Identification of PRRT2 asthe causative gene of paroxysmal kinesigenic dyskinesias. Brain 2012;134: 490-98.
-
(2012)
Brain
, vol.134
, pp. 490-498
-
-
Wang, J.L.1
Cao, L.2
Li, X.H.3
Hu, Z.M.4
Li, J.D.5
-
13
-
-
84862776732
-
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
-
Li J, Zhu X, Wang X, Sun W, Feng B, 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
Sun, W.4
Feng, B.5
-
14
-
-
84856144700
-
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsion
-
Lee HY, Huang Y, Bruneau N, Roll P, Roberson EDO, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsion. Cell Reports 2012; 1: 1-11.
-
(2012)
Cell Reports
, vol.1
, pp. 1-11
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
Roll, P.4
Roberson, E.D.O.5
-
15
-
-
84855827661
-
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
-
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012; 90: 152-60.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 152-160
-
-
Heron, S.E.1
Grinton, B.E.2
Kivity, S.3
Afawi, Z.4
Zuberi, S.M.5
-
16
-
-
0030077124
-
Paroxysmal kinesigenic choreoathetosis
-
Choi IS, Kim JH, Jung WY. Paroxysmal kinesigenic choreoathetosis. Yonsei Med J 1996; 37:68-71.
-
(1996)
Yonsei Med J
, vol.37
, pp. 68-71
-
-
Choi, I.S.1
Kim, J.H.2
Jung, W.Y.3
-
17
-
-
0035070844
-
Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis
-
Ko CH, Kong CK, Ngai WT, Ma KM. Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 2001; 24:225-27.
-
(2001)
Pediatr Neurol
, vol.24
, pp. 225-227
-
-
Ko, C.H.1
Kong, C.K.2
Ngai, W.T.3
Ma, K.M.4
-
18
-
-
0021331123
-
Pure hemidystonia with basal ganglion abnormalities on positron emission tomography
-
Perlmutter JS, Raichle ME. Pure hemidystonia with basal ganglion abnormalities on positron emission tomography. Ann Neurol 1984; 15:228-33.
-
(1984)
Ann Neurol
, vol.15
, pp. 228-233
-
-
Perlmutter, J.S.1
Raichle, M.E.2
-
20
-
-
0029834871
-
Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine
-
Wein T, Andermann F, Silver K, Dubeau F, Andermann E, Rourke-Frew F, Keene D. Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine. Neurology 1996; 47:1104-06.
-
(1996)
Neurology
, vol.47
, pp. 1104-1106
-
-
Wein, T.1
Andermann, F.2
Silver, K.3
Dubeau, F.4
Andermann, E.5
Rourke-Frew, F.6
Keene, D.7
-
21
-
-
0034057609
-
Oxcarbazepine therapy in paroxysmal kinesigenic choreoathetosis
-
Gokcay A, Gokcay F. Oxcarbazepine therapy in paroxysmal kinesigenic choreoathetosis. Acta Neurol Scand 2000; 101:344-45.
-
(2000)
Acta Neurol Scand
, vol.101
, pp. 344-345
-
-
Gokcay, A.1
Gokcay, F.2
-
22
-
-
0033755150
-
Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis
-
Uberall MA, Wenzel D. Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis. Dev Med Child Neurol 2000; 42:699-700.
-
(2000)
Dev Med Child Neurol
, vol.42
, pp. 699-700
-
-
Uberall, M.A.1
Wenzel, D.2
-
23
-
-
84862912899
-
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
-
Liu Q, Qi Z, Wan XH, Li JY, Shi L, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability 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
Li, J.Y.4
Shi, L.5
|