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J-GLOBAL ID：201602283875458149   Reference number：16A0552560

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

NALCNのde novoミスセンス変異は,筋緊張低下を伴う発達遅滞および知的障害を引き起こす

Author (17)： FUKAI Ryoko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  SAITSU Hirotomo (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  OKAMOTO Nobuhiko (Osaka Medical Center and Res. Inst. Maternal and Child Health, Izumi, JPN) ,  SAKAI Yasunari (Kyushu Univ., Fukuoka, JPN) ,  FATTAL-VALEVSKI Aviva (Tel Aviv Univ., Tel Aviv, ISR) ,  SHIINA Masaaki (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  KITAI Yukihiro (Morinomiya Hospital, Osaka, JPN) ,  TORIO Michiko (Kyushu Univ., Fukuoka, JPN) ,  KOJIMA-ISHII Kanako (Kyushu Univ., Fukuoka, JPN) ,  IHARA Kenji (Kyushu Univ., Fukuoka, JPN) ,  IHARA Kenji (Oita Univ., Yufu, JPN) ,  CHERNUHA Veronika (Tel Aviv Univ., Tel Aviv, ISR) ,  NAKASHIMA Mitsuko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYATAKE Satoko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  TANAKA Fumiaki (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYAKE Noriko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MATSUMOTO Naomichi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 61  Issue： 5  Page： 451-455  Publication year： May. 2016 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： missense mutation ,...
Semi thesaurus term： *Muscle Hypotonia ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Mental disorders  (GR03000A)

Reference (19)：

• Lu, B., Su, Y., Das, S., Liu, J., Xia, J. & Ren, D. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. Cell 129, 371-383 (2007).
• Stephens, R. F., Guan, W., Zhorov, B. S. & Spafford, J. D. Selectivity filters and cysteine-rich extracellular loops in voltage-gated sodium, calcium, and NALCN channels. Front. Physiol. 6, 153 (2015).
• Senatore, A. & Spafford, J. D. A uniquely adaptable pore is consistent with NALCN being an ion sensor. Channels 7, 60-68 (2013).
• Ren, D. Sodium leak channels in neuronal excitability and rhythmic behaviors. Neuron 72, 899-911 (2011).
• Koroglu, C., Seven, M. & Tolun, A. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J. Med. Genet. 50, 515-520 (2013).

Terms in the title (4)： ミスセンス変異 ,  筋緊張低下 ,  発達遅滞 ,  知的障害