논문KCI 등재
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A
2
조회
0
다운로드
1
인용
0
참고문헌
참고문헌 (6)
- Ptácek LJ, "Identification of a mutation in the gene causing hyperkalemic periodic paralysis", Cell, 67, pp.1021~1027 (1991)
- Koch MC, "Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)", Neuroreport, 6, pp.2001~2004 (1995)
- Arnold WD, "Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome", Ann Neurol, 77, pp.840~850 (2015)
- Brancati F, "Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A", J Neurol Neurosurg Psychiatry, 74, pp.1339~1341 (2003)
- Gay S, "Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene", Am J Med Genet A, 146A, pp.380~383 (2008)
- Fontaine B, "Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families", Nat Genet, 6, pp.267~272 (1994)
관련 논문AI추천
A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report김소현, 하형석, Hung Youl Seok, Jin-Sung Park, Minsung Kang대한임상신경생리학회 · Annals of Clinical Neurophysiology2024 · 제26권 제1호Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy김대성, 김향숙, 박규현, 박영은, 이상찬, 최영철대한신경과학회 · Journal of Clinical Neurology2009 · 제5권 제4호Clinical Characteristics and Analysis of CLCN1 in Patients with “EMG Disease”김명규, 김영옥, 남태승, 정현정, 조기현, 최석용대한신경과학회 · Journal of Clinical Neurology2012 · 제8권 제3호A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia김신엽, 손성연, 신인자, 주인수대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제2호표현형 차이를 보인 CLCN1유전자(p.A313T)돌연변이를 가진 한국인 선천근긴장증 가족박진성, 신진홍, 황선재대한신경과학회 · 대한신경과학회지2016 · 제34권 제3호A Family Harboring CMT1A Duplication and HNPP Deletion강희진, 김상범, 김준기, 송현석, 이정화, 정기화, 조선영, 최병옥, 황수진대한신경과학회 · Journal of Clinical Neurology2007 · 제3권 제2호
이 간행물의 다른 논문 (24건)
Harnessing Cerebrospinal Fluid Biomarkers in Clinical Trials for Treating Alzheimer’s and Parkinson’s Diseases: Potential and Challenges김영삼, 김다나, 신동운, 박창신, 강주희pp. 381-392The KMDS-NATION Study: Korean Movement Disorders Society Multicenter Assessment of Non-Motor Symptoms and Quality of Life in Parkinson’s Disease NATION Study Group박희경, 김민정, 김현숙, 박미영, 이광수, 이호원, 윤지영, 정선주, 김희진, 김지영, 김상진, 강지훈, 이지영, 김지선, 김은주, 천상명, 김재우, 윤진영, 김종민, 이재혁, 김용덕, 최성민, 오형근, 박정호, 박건우, 최선아, 신혜원, 송인욱, 김희태, 김한준, 이정식, 손영호, 김중석, 김원찬, 박지운, 박기종, 백종삼, 조진환, 고성범, 이필휴, 전범석, 안태범, 권도영, 송숙근pp. 393-402Seasonal Changes in the Incidence of Transient Global AmnesiaIsrael Steiner, Tzippy Shochat, Nirit Lev, Ophir Keretpp. 403-406A 6-Point TACS Score Predicts In-Hospital Mortality Following Total Anterior Circulation StrokeMarcus D Flather, John F Potter, Phyo Kyaw Myinta, Anthony K Metcalf, Kristian M Bowles, Adrian D Wood, Nicholas D Gollop, Joao H Bettencourt-Silva, Allan B Clarkpp. 407-413Effects of Regular Treadmill Exercise on a DNA Oxidative-Damage Marker and Total Antioxidant Capacity in Rat Hippocampal TissueJila Masrour-Roudsari, Soleiman Mahjoub, Karimollah Hajian-Tilaki, Roghayeh Pourbagher, Arezoo Ghadipp. 414-418
