The Role of PRRT2 in Synaptic Transmission May Not Be So Benign
- PMID: 28684951
- PMCID: PMC5486426
- DOI: 10.5698/1535-7511.17.3.165
The Role of PRRT2 in Synaptic Transmission May Not Be So Benign
Comment on
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PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.Cell Rep. 2016 Apr 5;15(1):117-131. doi: 10.1016/j.celrep.2016.03.005. Epub 2016 Mar 24. Cell Rep. 2016. PMID: 27052163 Free PMC article.
References
-
- Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012; 90: 152– 160. - PMC - PubMed
-
- Ebrahimi Fakhari D, Saffari A, Westenberger A, Klein C.. The evolving spectrum of PRRT2 associated paroxysmal diseases. Brain 2015; 138: 3476– 3495. - PubMed
-
- 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, Muller 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, Ptacek LJ.. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012; 1: 2– 12. - PMC - PubMed
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