نتایج جستجو برای: dravet syndrome

تعداد نتایج: 621933  

Journal: :Rinsho shinkeigaku = Clinical neurology 2010
Shinichi Hirose

The genetic diagnosis of epilepsy has become feasible and should help the clinical practice of epilepsy. Epilepsy syndromes where genetic diagnosis is applicable are still limited in number though the list of such epilepsy syndromes including progressive myoclonic epilepsies (PME ) , Dravet syndrome and other familial idiopathic epilepsies is now growing. For the diagnosis of epilepsy, genotypi...

2013
Ikuo Ogiwara Takuji Iwasato Hiroyuki Miyamoto Ryohei Iwata Tetsushi Yamagata Emi Mazaki Yuchio Yanagawa Nobuaki Tamamaki Takao K. Hensch Shigeyoshi Itohara Kazuhiro Yamakawa

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...

Journal: :Journal of Paediatrics and Child Health 2018

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