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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore 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. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. ...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipi …
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). ...
., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite ox …
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
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. van Karnebeek CD, et al. Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Pediatr Neurol. 2016. PMID: 26995068 Review.
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. ...Given its amenability to treatment with lysine-lowering strategies in addition to pyridoxine supplementation for opt …
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin ( …
High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment.
Anderson J, Arboleda N, Calleo V. Anderson J, et al. MedEdPORTAL. 2018 Sep 21;14:10753. doi: 10.15766/mep_2374-8265.10753. MedEdPORTAL. 2018. PMID: 30800953 Free PMC article.
This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-dependent epilepsy. The target audience is emergency medicine and pediatric residents, pediatric emergency medicine fellows, and me …
This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-de …
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E. Jamali A, et al. Epilepsy Res. 2023 Feb;190:107099. doi: 10.1016/j.eplepsyres.2023.107099. Epub 2023 Jan 27. Epilepsy Res. 2023. PMID: 36731270
BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. ...
BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. . …
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao X, Xue J, Gong P, Wu Y, Zhang Y, Jiang Y, Yang Z. Jiao X, et al. Dev Med Child Neurol. 2020 Mar;62(3):315-321. doi: 10.1111/dmcn.14385. Epub 2019 Nov 18. Dev Med Child Neurol. 2020. PMID: 31737911 Free article.
AIM: To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epilepsy (PDE). METHOD: We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y …
AIM: To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epile …
Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J, Schiff M. Bouchereau J, et al. J Nutr. 2020 Oct 1;150(Suppl 1):2556S-2560S. doi: 10.1093/jn/nxaa112. J Nutr. 2020. PMID: 33000154 Free article. Review.
Early treated (ideally through newborn screening) patients exhibit a favorable long-term neurocognitive outcome, whereas late-treated or untreated patients may present severe neurocognitive irreversible disabilities. Antiquitin deficiency is the most common form of pyridoxine …
Early treated (ideally through newborn screening) patients exhibit a favorable long-term neurocognitive outcome, whereas late-treated or unt …
116 results