Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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DOI：
10.1016/j.celrep.2011.11.001
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发表时间：
2012-01-26
期刊：
影响因子：
8.8
通讯作者：
Ptáček LJ
中科院分区：
文献类型：
--
作者：
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
Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the PRRT2 gene in the vast majority (24/25) of well characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. The PRRT2 gene encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture and mutants associated with PKD/IC lead to dramatically reduced PRRT2 protein levels leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
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DOI：
10.1126/science.1194472
发表时间：
2010-12-03
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Harbour JW;Onken MD;Roberson ED;Duan S;Cao L;Worley LA;Council ML;Matatall KA;Helms C;Bowcock AM
通讯作者：
Bowcock AM
影响因子：
64.8
作者：
Hu, K;Carroll, J;Davletov, B
通讯作者：
Davletov, B
影响因子：
9.9
作者：
Mirsattari, SM;Berry, MER;Power, C
通讯作者：
Power, C
影响因子：
9.8
作者：
Caraballo, R;Pavek, S;Szepetowski, P
通讯作者：
Szepetowski, P
影响因子：
5.1
作者：
DRAKE, ME
通讯作者：
DRAKE, ME