Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation
Author:
Funder
Instituto de Salud Carlos III
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04961-x.pdf
Reference21 articles.
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2. Lo Y-F, Yang S-S, Seki G, Yamada H, Horita S, Yamazaki O, Fujita T, Usui T, Tsai JD, Yu IS, Lin SW, Lin SH (2011) Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. Kidney Int 79(7):730–741
3. Suzuki M, Van Paesschen W, Stalmans I et al (2010) Defective membrane expression of the Na(+)-HCO(3)(−) cotransporter NBCe1 is associated with familial migraine. Proc Natl Acad Sci U S A 107(36):15963–15968
4. Dinour D, Chang M-H, Satoh J-I, Smith BL, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF (2004) A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. J Biol Chem 279(50):52238–52246
5. Shiohara M, Igarashi T, Mori T, Komiyama A (2000) Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis. Eur J Pediatr 159(12):892–894
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