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논문KCI 등재

채널병의 유전학: 가족형주기성마비

Genetics of Channelopathy: Familial Periodic Paralysis

김명규
대한신경과학회 (Korean Neurological Association)|2005.12|대한신경과학회지 (Journal of the Korean Neurological Association)|제23권 제6호|pp. 737-744

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참고문헌

주제분류신경과학

초록

Abstract

Familial periodic paralysis (FPP) is inherited as a dominant trait, and the intermittent failure to maintain the skeletal muscle resting potential is due to mutations in the genes coding for the voltage-gated ion channels. Because several variants of FPP have been delineated on the bases of clinical features, the expectation was that these variants might be due to involvement of different classes of ion channels. The reality of the situation has proven to be more complicated. Mutation-induced defects in the same channel may give rise to diverse phenotypes (phenotypic heterogeneity) and, conversely, mutation in different channel genes may produce a common phenotype (genetic heterogeneity). Regardless of which type of ion channel is defective, the final common pathway is the depolarization-induced loss of muscle excitability; gain-of-function defect in voltage-gated Na channel may cause myotonia, periodic paralysis or both, clinical features of hyperkalemic periodic paralysis and paramyotonia congenita, and loss-of-function defects in voltage-gated Na and Ca channel and K channel may be responsible for periodic paralysis, cardiac arrhythmia or both in hypokalemic periodic paralysis or Andersen's syndrome, respectively. This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie FPP.

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관련 논문AI추천

An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis김경리, 서은숙, 이영목대한소아신경학회 · 대한소아신경학회지2012 · 제20권 제1호A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A유다혜, 이상수, 이수정, 정기화, 최병옥대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제4호표현형 차이를 보인 CLCN1유전자(p.A313T)돌연변이를 가진 한국인 선천근긴장증 가족박진성, 신진홍, 황선재대한신경과학회 · 대한신경과학회지2016 · 제34권 제3호Slow-Channel Congenital Myasthenic Syndrome Due to CHRND Mutation in South KoreaIn Soo Joo, Je Hong Min, Shin Yeop Kim, Sung-Yeon Sohn대한신경과학회 · Journal of Clinical Neurology2025 · 제21권 제5호Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy김대성, 김향숙, 박규현, 박영은, 이상찬, 최영철대한신경과학회 · Journal of Clinical Neurology2009 · 제5권 제4호영구적인 근력 약화를 보이는 Andersen-Tawil syndrome강민재, 고길준, 기창석, 김병준, 김준석, 성덕현대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2011 · 제13권 제1호

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