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Page 1
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
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. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. J Inherit Metab Dis. 2019. PMID: 30043187 Free PMC article. Review.
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. ...
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pha …
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM Jr, Coughlin CR 2nd. Pauly K, et al. Mol Genet Metab. 2025 Jan;144(1):109002. doi: 10.1016/j.ymgme.2024.109002. Epub 2024 Dec 16. Mol Genet Metab. 2025. PMID: 39729892 Free PMC article.
BACKGROUND: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. ...
BACKGROUND: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically charac …
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 …
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 …
Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy.
Wu J, Qin D, Liang Z, Liu Q, Wang M, Guo Y, Guo W. Wu J, et al. Mol Ther. 2025 Apr 2;33(4):1785-1802. doi: 10.1016/j.ymthe.2025.02.027. Epub 2025 Feb 20. Mol Ther. 2025. PMID: 39980193 Free PMC article.
In spite of adequate seizure control, approximately 75% of pyridoxine-dependent epilepsy (PDE) patients with ALDH7A1 mutation still suffer from intellectual disability. ...
In spite of adequate seizure control, approximately 75% of pyridoxine-dependent epilepsy (PDE) patients with ALDH7A1 mu …
Identifying Metabolic Diseases That Precipitate Neonatal Seizures.
Judy RL, Reynolds JL, Jnah AJ. Judy RL, et al. Neonatal Netw. 2024 May 1;43(3):139-147. doi: 10.1891/NN-2023-0048. Neonatal Netw. 2024. PMID: 38816225 Review.
Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now include many IEMs. Three in particular-pyridoxine-dependent epilepsy, maple syrup urine disease, and Zellweger spectrum …
Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now i …
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.
Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial oxidative phosphorylation system, serine deficiency, and pyridoxine dependent epilepsy. Other secondary causes of cerebral fol …
Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial oxidati …
104 results