Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic...

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Veröffentlicht in:	PloS one 2016-05, Vol.11 (5), p.e0154827-e0154827
Hauptverfasser:	Okuda, Hiroko, Noguchi, Atsuko, Kobayashi, Hatasu, Kondo, Daiki, Harada, Kouji H, Youssefian, Shohab, Shioi, Hirotomo, Kabata, Risako, Domon, Yuki, Kubota, Kazufumi, Kitano, Yutaka, Takayama, Yasunori, Hitomi, Toshiaki, Ohno, Kousaku, Saito, Yoshiaki, Asano, Takeshi, Tominaga, Makoto, Takahashi, Tsutomu, Koizumi, Akio
Format:	Artikel
Sprache:	eng
Schlagworte:	Action Potentials Adolescents Amino Acid Substitution Animals Asian Continental Ancestry Group Biology and Life Sciences Cell Line Cell lines Chromosome 3 Cold stimuli Dorsal root ganglia Drug screening Electric potential Family Female Firing rate Ganglia, Spinal - metabolism Ganglia, Spinal - physiopathology Gene mutation Genetic aspects Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - metabolism Genetic Diseases, Inborn - physiopathology Genetic Linkage Genetic Loci Humans Input impedance Ion channels Japan Kinases Laboratories Linkage analysis Male Medicine and Health Sciences Membrane potential Mice Mice, Transgenic Mitigation Mouse devices Mutation Mutation, Missense NAV1.9 Voltage-Gated Sodium Channel - genetics NAV1.9 Voltage-Gated Sodium Channel - metabolism Neuralgia - genetics Neuralgia - metabolism Neuralgia - physiopathology Neurons Pain Pedigree Peripheral neuropathy Phenotypes Physiological aspects Polyneuropathies Research and Analysis Methods Risk factors Rodents Sensory neurons Sodium Sodium channels (voltage-gated) Syndrome
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