References
- Kaminiów K, Pająk M, Pająk R, Paprocka J. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Brain Sci. 2021 Dec 31; 12(1): 65. doi: 10.3390/brainsci12010065. PMID: 35053812; PMCID: PMC8773593.
- Coughlin II, Curtis & Gospe, Jr, Sidney. (2023). Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research. Annals of the Child Neurology Society. 1. 10.1002/cns3. 20016.
- Coughlin CR 2nd, Tseng LA, Abdenur JE, Ash-more C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialde-hyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jan; 44(1): 178–192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. PMID: 33200442.
- Van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 Jun; 59: 6–12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. PMID: 26995068.
- Yang Z, Yang X, Wu Y, Wang J, Zhang Y, Xiong H, Jiang Y, Qin J. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. PLoS One. 2014 Mar 24; 9(3): e92803. doi: 10.1371/journal.pone.0092803. PMID: 24664145; PMCID: PMC3963937.
- Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul; 133(Pt 7): 2148–59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. PMID: 20554659; PMCID: PMC2892945.
- Acar DB, Bulbul A, Uslu S. Current Overview of Neonatal Convulsions. Sisli Etfal Hastan Tip Bul. 2019 Mar 22; 53(1): 1–6. doi: 10.14744/SEMB.2018.22844. PMID: 33536818; PMCID: PMC7847733.
- Kaminiów K, Kozak S, Paprocka J. Neonatal Seizures Revisited. Children (Basel). 2021 Feb 18; 8(2): 155. doi: 10.3390/children8020155. PMID: 33670692; PMCID: PMC7922511.
- H. Al-Shekaili H, van Karnebeek C and R. Leavitt B (2022) Vitamin B6 and Related Inborn Errors of Metabolism. B-Complex Vitamins – Sources, In-takes and Novel Applications. IntechOpen. DOI: 10.5772/intechopen.99751.
- Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR 2nd, Coenen MA, van Spronsen FJ, Williams M, de Vries MC, Westerlaan HE, Bok LA, van Karnebeek CDM, Lunsing RJ. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study. Eur J Paediatr Neurol. 2021 Jul; 33: 112–120. doi: 10.1016/j.ejpn.2021.06.001. Epub 2021 Jun 7. PMID: 34153871.
- Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. Eur J Paediatr Neurol. 2018 Nov; 22(6): 1042–1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3. PMID: 30005813.
- Jansen LA, Hevner RF, Roden WH, Hahn SH, Jung S, Gospe SM Jr. Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. Ann Neurol. 2014 Jan; 75(1): 22–32. doi: 10.1002/ana.24027. Epub 2014 Jan 2. PMID: 24122892; PMCID: PMC3945410.
- Agadi S, Quach MM, Haneef Z. Vitamin-responsive epileptic encephalopathies in children. Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25. PMID: 23984056; PMCID: PMC3745849.
- Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 Mar; 42(2): 353–361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. PMID: 30043187; PMCID: PMC6345606.
- Mills, P., Struys, E., Jakobs, C. et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12, 307–309 (2006). https://doi.org/10.1038/nm1366
- Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T. Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. Neurology. 2023 Aug 14:10.1212/WNL.0000000000207829. doi: 10.1212/WNL.0000000000207829. Epub ahead of print. PMID: 37580162.
- Lin J, Lin K, Masruha MR, Vilanova LC. Pyridoxine-dependent epilepsy initially responsive to phenobarbital. Arq Neuropsiquiatr. 2007 Dec; 65(4A): 1026–9. doi: 10.1590/s0004-282x2007000600023. PMID: 18094870.
- Wilson MP, Plecko B, Mills PB, Clayton PT. Disorders affecting vitamin B6 metabolism. J Inherit Metab Dis. 2019 Jul; 42(4): 629–646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. PMID: 30671974.
- Falsaperla R, Sciacca M, Collotta AD, Tardino LG, Marino S, Marino SD, Privitera GF, Vitaliti G, Ruggieri M. PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications. Seizure. 2024 May; 118: 156–163. doi: 10.1016/j. seizure.2024.04.012. Epub 2024 May 11. PMID: 38735085.