A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome-Reference-Cited by-同舟云学术

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A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome

Published:2010-01-29 Issue:3 Volume:55 Page:186-188
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Chan Hoi-Fong,Chen Meng-Ling,Su Jen-Jen,Ko Li-Chin,Lin Chin-Hsien,Wu Ruey-Meei

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg20102.pdf

Reference15 articles.

1. Andersen, E. D., Krasilnikoff, P. A. & Overvad, H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta. Paediatr. Scand. 60, 559–564 (1971).

2. Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A. et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105, 511–519 (2001).

3. Patil, N., Cox, D. R., Bhat, D., Faham, M., Myers, R. M. & Peterson, A. S. A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat. Genet. 11, 126–129 (1995).

4. Yoon, G., Quitania, L., Kramer, J. H., Fu, Y. H., Miller, B. L. & Ptacek, L. J. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology 66, 1703–1710 (2006).

5. Haruna, Y., Kobori, A., Makiyama, T., Yoshida, H., Akao, M., Doi, T. et al. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum. Mutat. 28, 208–220 (2007).

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