Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2013 1
2014 1
2015 2
2016 1
2017 2
2018 2
2019 3
2020 1
2021 1
2022 3
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
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. ...To improve outcome, a lysine-restricted diet and competitive inh …
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.
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal …
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-o …
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. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement, and most patients ach …
Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epilept …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Cerebral folate deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropriate therapy is of paramount importance. Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, in …
Cerebral folate deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropria …
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.
Sharma S, Prasad AN. Sharma S, et al. Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384. Int J Mol Sci. 2017. PMID: 28671587 Free PMC article. Review.
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. ...Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical …
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patien …
Priorities for Newborn Screening of Genetic Epilepsy.
Hess-Homeier DL, Cunniff C, Grinspan ZM. Hess-Homeier DL, et al. Pediatr Neurol. 2019 Dec;101:83-85. doi: 10.1016/j.pediatrneurol.2019.07.009. Epub 2019 Jul 29. Pediatr Neurol. 2019. PMID: 31570297 No abstract available.
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 …
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Al Teneiji A, Bruun TU, Cordeiro D, Patel J, Inbar-Feigenberg M, Weiss S, Struys E, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Metab Brain Dis. 2017 Apr;32(2):443-451. doi: 10.1007/s11011-016-9933-8. Epub 2016 Nov 23. Metab Brain Dis. 2017. PMID: 27882480
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). ...There was no correlation between severity of the phenotype and the degree of alpha-AASA elevation in urine or genotype …
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH …
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR 2nd. Wempe MF, et al. J Inherit Metab Dis. 2019 May;42(3):565-574. doi: 10.1002/jimd.12059. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30663059
Pyridoxine-dependent epilepsy (PDE) is often characterized as an early onset epileptic encephalopathy with dramatic clinical improvement following pyridoxine supplementation. Unfortunately, not all patients present with classic neonatal seizures or res …
Pyridoxine-dependent epilepsy (PDE) is often characterized as an early onset epileptic encephalopathy with dramatic cli …
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. ...To make sure that late and masked response is not missed, treatment with …
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic e …
16 results