Defective membrane expression of the Na(+)-HCO(3)(−) cotransporter NBCe1 is associated with familial migraine

Homozygous mutations in SLC4A4, encoding the electrogenic Na(+)-HCO(3)(−) cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, ocular abnormalities, and hemiplegic migraine. Genetic analysis rul...

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Main Authors: Suzuki, Masashi, Van Paesschen, Wim, Stalmans, Ingeborg, Horita, Shoko, Yamada, Hideomi, Bergmans, Bruno A., Legius, Eric, Riant, Florence, De Jonghe, Peter, Li, Yuehong, Sekine, Takashi, Igarashi, Takashi, Fujimoto, Ichiro, Mikoshiba, Katsuhiko, Shimadzu, Mitsunobu, Shiohara, Masaaki, Braverman, Nancy, Al-Gazali, Lihadh, Fujita, Toshiro, Seki, George
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2010
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2936614/
https://ncbi.nlm.nih.gov/pubmed/20798035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1008705107
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