Article
A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.
Neuroscience letters - 21 Jun 2012
Kokunai Yosuke, Goto Keigo, Kubota Tomoya, Fukuoka Takaaki, Sakoda Saburo, Ibi Tohru, Doyu Manabu, Mochizuki Hideki, Sahashi Ko, Takahashi Masanori P
Abstract excerpt
Mutations of the voltage gated sodium channel gene (SCN4A) are responsible for non-dystrophic myotonia including hyperkalemic periodic paralysis, paramyotonia congenita, and sodium channel myotonia, as well as congenital myasthenic syndrome. In vitro functional analyses have demonstrated the non-dystrophic mutants to show a gain-of-function defect of the channel; a disruption of fast inactivation, an enhancement...
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