Sudden unexpected death in a mouse model of Dravet syndrome
نویسندگان
چکیده
منابع مشابه
Sudden unexpected death in a mouse model of Dravet syndrome.
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to SUDEP are unknown. Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1. We studied the mechanism of premat...
متن کاملSudden unexpected death in dravet syndrome.
Commentary Sudden unexpected death in epilepsy (SUDEP) is a rare, fatal complication of epilepsy defined as sudden death in an individual with epilepsy, in the absence of an obvious cause of death (1). The cause of SUDEP is unknown; however, it is hypothesized that there may be a disruption in respiration, heart rhythm, or cerebral shutdown (1). The population incidence of SUDEP in individuals ...
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Sudden infant death has haunted humanity since Biblical times, and many people are still confused about how to differentiate sudden infant death syndrome from other causes of sudden infant death, such as myocarditis or congenital heart disease. Because of the difficulty of diagnosis, the authors say that SIDS has become a “diagnostic dustbin,” but unnecessarily so. They provide the diagnostic c...
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Dravet syndrome is a severe epileptic encephalopathy mainly caused by heterozygous mutations in the SCN1A gene encoding a voltage-gated sodium channel Nav1.1. We previously reported dense localization of Nav1.1 in parvalbumin (PV)-positive inhibitory interneurons in mice and abnormal firing of those neurons in Nav1.1-deficient mice. In the present study, we investigated the physiologic conseque...
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Teresa Pusiol*, MD; Doriana Morichetti1, MD; Maria Grazia Zorzi1, MD; Luigi Matturri2, MD; Anna Maria Lavezzi2, MD 1Institute of Anatomic Pathology, Rovereto Hospital, Rovereto, Trento, 2“Lino Rossi” Research Center of the Milan University, Italy Received: Sep 23, 2013; Accepted: Oct 26, 2013; First Online Available: Aug 15, 2014 On 26th of April 2012, the “Autonomous Province of Trento” has br...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2013
ISSN: 0021-9738
DOI: 10.1172/jci66220