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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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. Lee HY, et al. Among authors: soong bw. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Bruno MK, et al. Among authors: soong bw. Neurology. 2004 Dec 28;63(12):2280-7. doi: 10.1212/01.wnl.0000147298.05983.50. Neurology. 2004. PMID: 15623687 Review.
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Liu YT, Nian FS, Chou WJ, Tai CY, Kwan SY, Chen C, Kuo PW, Lin PH, Chen CY, Huang CW, Lee YC, Soong BW, Tsai JW. Liu YT, et al. Among authors: soong bw. Oncotarget. 2016 Jun 28;7(26):39184-39196. doi: 10.18632/oncotarget.9258. Oncotarget. 2016. PMID: 27172900 Free PMC article.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW. Lee YC, et al. Among authors: soong bw. Ann Neurol. 2012 Dec;72(6):859-69. doi: 10.1002/ana.23701. Ann Neurol. 2012. PMID: 23280837 Free PMC article.
176 results