지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 19 - 22 (4page)
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초록· 키워드
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The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.
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참고문헌 (11)
참고문헌 신청
Szepetowski P / 1997 / Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16 / Am J Hum Genet 61:889~898
Swoboda KJ / 2000 / Paroxysmal kinesigenic dyskinesia and infantile convulsions : clinical and linkage studies / Neurology 55:224~230
Heron SE / 2012 / PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome / Am J Hum Genet 90:152~160
Lee HY / 2012 / Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions / Cell Rep 1:2~12
Ono S / 2012 / Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions / J Hum Genet 57:338~341
Swoboda KJ / 2000 / Paroxysmal kinesigenic dyskinesia and infantile convulsions : clinical and linkage studies / Neurology 55:224~230
Heron SE / 2012 / PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome / Am J Hum Genet 90:152~160
Lee HY / 2012 / Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions / Cell Rep 1:2~12
Ono S / 2012 / Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions / J Hum Genet 57:338~341
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