참고문헌
- 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;61:889-98. https://doi.org/10.1086/514877
- Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000;55:224-30. https://doi.org/10.1212/WNL.55.2.224
- Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-60. https://doi.org/10.1016/j.ajhg.2011.12.003
- Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12. https://doi.org/10.1016/j.celrep.2011.11.001
- Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012;57:338-41. https://doi.org/10.1038/jhg.2012.23
- Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013;50:133-9. https://doi.org/10.1136/jmedgenet-2012-101406
- Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, et al. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat 2012;33:1439-43. https://doi.org/10.1002/humu.22126
- Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-5. https://doi.org/10.1038/ng.1008
- Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-501. https://doi.org/10.1093/brain/awr289
- Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Durr A, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012;79:170-4. https://doi.org/10.1212/WNL.0b013e31825f06c3
- Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. Spatiotemporal transcriptome of the human brain. Nature 2011;478:483-9. https://doi.org/10.1038/nature10523