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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 …
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. . …
A case for newborn screening for pyridoxine-dependent epilepsy.
Coughlin CR 2nd, Tseng LA, van Karnebeek CDM. Coughlin CR 2nd, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006197. doi: 10.1101/mcs.a006197. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35217564 Free PMC article.
Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. ...
Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epilept …
Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.
Yazdani M, Elgstøen KBP. Yazdani M, et al. Seizure. 2021 Oct;91:369-373. doi: 10.1016/j.seizure.2021.07.014. Epub 2021 Jul 17. Seizure. 2021. PMID: 34298455 Free article. Review.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy that is responsive to pharmacologic doses of vitamin B(6). ...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy that is re …
113 results