Author:
Assi Lama,Saklawi Youssef,Karam Pascale E.,Obeid Makram
Publisher
Springer Science and Business Media LLC
Reference74 articles.
1. Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. 1954;13(2):140–5.
2. Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12(3):307–9.
3. •• Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, et al. Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B 6-dependent epilepsy. Am J Hum Genet. 2016;99(6):1325–37. Identified a new gene that can cause pyridoxine-dependent epilepsy
4. Ebinger M, Schultze C, Konig S. Demographics and diagnosis of pyridoxine-dependent seizures. J Pediatr. 1999;134(6):795–6.
5. van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR, et al. Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol. 2016;59:6–12.
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