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세부과제번호
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2013M3A9D5072551
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단계
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2단계 1차년도
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세부과제명
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시각기 2차 표현형분석기반 구축 및 서비스 제공
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공동 유/무
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N
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SCI여부
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Y
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게재년월
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2017-08
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논문제목
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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
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총저자명
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Yongjin Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsa
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학술지명
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Ann. Neurol.
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게재권(호)
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82(3)
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저널구분
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-
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페이지수
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466-478
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참여연구원
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-
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연구책임자
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서경률
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과제기여도
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30
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PMID
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28856709
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사사기관수
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-
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IF (년도)
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9.89
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제1저자
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Yongjin Yoo
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교신저자
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Murim Choi
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공동저자
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Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsay B Henderson
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초록
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Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions.
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