Dysfunction of the Voltage-Gated K Channel b2 Subunit in a Familial Case of Brugada Syndrome
نویسندگان
چکیده
Vincent Portero, PhD;* Solena Le Scouarnec, PhD;* Zeineb Es-Salah-Lamoureux, PhD;* Sophie Burel, MS; Jean-Baptiste Gourraud, MD, PhD; St ephanie Bonnaud, PhD; Pierre Lindenbaum, PhD; Floriane Simonet, MS; Jade Violleau, BS; Estelle Baron, BS; El eonore Moreau, MS; Carol Scott, MS; St ephanie Chatel, PhD; Gildas Loussouarn, PhD; Thomas O’Hara, PhD; Philippe Mabo, MD; Christian Dina, PhD; Herv e Le Marec, MD, PhD; Jean-Jacques Schott, PhD; Vincent Probst, MD, PhD; Isabelle Bar o, PhD; C eline Marionneau, PhD; Flavien Charpentier, PhD; Richard Redon, PhD;
منابع مشابه
Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome
BACKGROUND The Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely unknown. METHODS AND RESULTS We combined whole-exome sequencing and linkage analysis to identify the genetic variant likely causing Brugada syn...
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There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, famili...
متن کاملAn autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene.
SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while ...
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INTRODUCTION Brugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to acco...
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Brugada syndrome is characterised by a typical ECG with ST segment elevation in the right precordial leads. Individuals with this condition are susceptible to ventricular arrhythmias and sudden cardiac death. The principal gene responsible for this syndrome is SCN5A, which encodes the α-subunit of the Nav1.5 voltage-gated sodium channel. Mutations involving other genes have been increasingly re...
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