- Channelopathies
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Kim JB
- KMID: 1875954
- Korean J Pediatr.
- 2014 Jan;57(1):1-18.
- doi: 10.3345/kjp.2014.57.1.1
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the... -
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- Potassium Channelopathies and Gastrointestinal Ulceration
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Han J, Lee SH, Giebisch G, Wang T
- KMID: 2412092
- Gut Liver.
- 2016 Nov;10(6):881-889.
- doi: 10.5009/gnl15414
Potassium channels and transporters maintain potassium homeostasis and play significant roles in several different biological actions via potassium ion regulation. In previous decades, the key revelations that potassium channels and... -
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- Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations
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Suh BC, Choi BO, Chung KW, Kim SM, Jung YK, Kim SB, Sunwoo IN
- KMID: 1572461
- J Korean Neurol Assoc.
- 2006 Jun;24(3):265-269.
Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a... -
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- Hyperkalemic Paralysis with Unexplained Causes: A Case Report
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Cho HD, Yi JH, Kim YH, Han SW, Kim HJ
- KMID: 2079691
- Korean J Nephrol.
- 2007 May;26(3):348-352.
Hyperkalemic paralysis can be either a rare hereditary form due to channelopathies or common secondary ones related to various medications interfering potassium homeostasis upon underlying renal impairment. We hereby describe... -
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- 2018 KHRS Guidelines for Catheter Ablation of Ventricular Arrhythmias: Part 2
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Kim JY, Kim SH, Kim YR, Kim YN, Kim J, Kim TH, Nam GB, Roh SY, Park KM, Park HS, Pak HN, Bae EJ, Oh S, Yoon N, Lee MY, Cho Y, Cho Y, Jin ES, Cha TJ, Choi JI
- KMID: 2418773
- Int J Arrhythm.
- 2018 Jun;19(2):63-81.
- doi: 10.18501/arrhythmia.2018.007
The recommendations outlined constitute the first clinical practice guidelines of the Korean Heart Rhythm Society regarding catheter ablation of ventricular arrhythmias (VA). This is a guideline PART 2, which includes... -
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- Association Analysis of Voltage-gated Chloride Channel Gene CLCN2 Polymorphism with Idiopathic Generalized Epilepsy
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Choi JE, Hwang H, Chae JH, Kim KJ, Hwang YS
- KMID: 2059401
- J Korean Child Neurol Soc.
- 2008 May;16(1):19-27.
PURPOSE: The channelopathies has been implicated in the pathogenesis of idiopathic generalized epilepsy(IGE). Recently, nonsense and missense mutations in a voltage-gated chloride channel gene(CLCN2) have been shown to be associated... -
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- The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis
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Kim JB, Kim SJ, Kang SY, Yi JW, Kim SM
- KMID: 2284384
- Korean J Pediatr.
- 2014 Oct;57(10):445-450.
- doi: 10.3345/kjp.2014.57.10.445
PURPOSE: Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium... -
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- An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
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Park YH, Kim JB
- KMID: 2011555
- Korean J Pediatr.
- 2010 Oct;53(10):909-912.
- doi: 10.3345/kjp.2010.53.10.909
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of... -
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- Current Issues in Migraine Genetics
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Lee JY, Kim M
- KMID: 2287710
- J Clin Neurol.
- 2005 Apr;1(1):8-13.
- doi: 10.3988/jcn.2005.1.1.8
Migraine often runs in families and is associated with both genetic and environmental factors. Clinical and genetic heterogeneity as well as the influence of environmental factors have hampered the identification... -
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- Management of Patients with Long QT Syndrome
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Cho Y
- KMID: 2355447
- Korean Circ J.
- 2016 Nov;46(6):747-752.
- doi: 10.4070/kcj.2016.46.6.747
Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated... -
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- Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
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Han JY, Kim JB
- KMID: 1506498
- Korean J Pediatr.
- 2011 Nov;54(11):470-472.
- doi: 10.3345/kjp.2011.54.11.470
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A... -
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- A Case of Thyrotoxic Periodic Paralysis in 17-Year-Old Adolescent
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Cho TH, Kim SC, Kim SJ
- KMID: 2329284
- J Korean Child Neurol Soc.
- 2013 Jun;21(2):68-72.
Thyrotoxic periodic paralysis (TPP) is a rare disease of muscle paralysis associated with hypokalemia and thyrotoxicosis. Hypokalemic periodic paralysis can be caused by potassium channelopathy or thyroid dysfunction. Thyrotoxic hypokalemic... -
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- Genetics of Channelopathy: Familial Periodic Paralysis
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Kim MK
- KMID: 1852252
- J Korean Neurol Assoc.
- 2005 Dec;23(6):737-744.
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... -
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- Ménière's Disease and Electrophysiology
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Kim SH
- KMID: 2371820
- Res Vestib Sci.
- 2017 Mar;16(1):1-9.
- doi: 10.21790/rvs.2017.16.1.1
Inner ear is composed of cochlea, vestibule, and endolymphatic sac which are enclosed by thin layer of epithelial cells. The enclosed space is filled with fluid named as endolymph where... -
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- Possibility of Epithelial Sodium Channelopathy as a Pathogenesis of Meniere's Disease
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Park SN, Lee BH, Park KH, Hong MH, Lee HY, Chang KH, Yeo SW
- KMID: 1603819
- J Korean Bal Soc.
- 2006 Jun;5(1):9-14.
BACKGROUND AND OBJECTIVES: Meniere's disease is a paroxysmal disorder with vertigo and hearing loss. Its episodic nature of vertigo attacks and responsiveness to diuretics is similar to several neurologic disorders... -
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- An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis
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Yeo CY, Kim YO, Kim MK, Kim JY, Cho YK, Kim CJ, Woo YJ
- KMID: 2280267
- Korean J Pediatr.
- 2008 Jul;51(7):771-774.
- doi: 10.3345/kjp.2008.51.7.771
Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3,... -
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- A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
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Kim G, Kyung YC, Kang IS, Song J, Huh J, On YK
- KMID: 2353166
- Korean J Pediatr.
- 2014 Aug;57(8):374-378.
Brugada syndrome is a rare channelopathy associated with the SCN5A gene that causes fatal ventricular arrhythmias. This case of Brugada syndrome, in which ventricular tachycardia (VT) was provoked by high... -
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- Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
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Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS
- KMID: 2287648
- J Clin Neurol.
- 2009 Dec;5(4):186-191.
- doi: 10.3988/jcn.2009.5.4.186
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal... -
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- The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia: A Pilot Study
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Jung KT, Park H, Kim JH, Shin DJ, Joung BY, Lee MH, Jang YS
- KMID: 2325860
- J Neurogastroenterol Motil.
- 2012 Jan;18(1):58-63.
BACKGROUND/AIMS: SCN5A encodes the cardiac-specific NaV1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel alpha-subunit (SCN5A) mutation. The SCN5A-encoded NaV1.5 channel is also found... -
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- Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea
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Jin BK, Bang JS, Choi EY, Kim GB, Kwon BS, Bae EJ, Noh CI, Choi JY, Kim WH
- KMID: 2284283
- Korean J Pediatr.
- 2013 Mar;56(3):125-129.
- doi: 10.3345/kjp.2013.56.3.125
PURPOSE: The use of implantable cardioverter defibrillators (ICDs) to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital... -
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