Results 91 to 100 of about 1,661 (121)

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. [PDF]

Hum Mol Genet, 2020
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR.   +14 more
europepmc   +1 more source

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow. [PDF]

Int J Neonatal Screen
Donge M, Marie S, Pochet A, Marcelis L, Luis G, Boemer F, Prouteau C, Mesli S, Cuykx M, Nguyen-Khoa T, Guénet D, Empain A, Barth M, Dauriat B, Laroche-Raynaud C, De Laet C, Verloo P, Jonckheere AI, Schiff M, Nassogne MC, Dewulf JP.   +20 more
europepmc   +1 more source

Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2020
Laciak AR, Korasick DA, Gates KS, Tanner JJ.   +3 more
europepmc   +1 more source

Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. [PDF]

Sci Adv
Yan J, Wu J, Xu M, Wang M, Guo W.
europepmc   +1 more source

Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1. [PDF]

FEBS J, 2020
Laciak AR, Korasick DA, Wyatt JW, Gates KS, Tanner JJ.   +4 more
europepmc   +1 more source

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. [PDF]

J Inherit Metab Dis, 2019
Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.   +16 more
europepmc   +1 more source

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. [PDF]

Genetics, 2017
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.   +16 more
europepmc   +1 more source

Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. [PDF]

Sci Rep, 2019
Xue J, Wang J, Gong P, Wu M, Yang W, Jiang S, Wu Y, Jiang Y, Zhang Y, Yuzyuk T, Li H, Yang Z.   +11 more
europepmc   +1 more source

Overview of psychiatric and behavioral adverse effects of levetiracetam. [PDF]

Front Neurol
Alkhotani AM.
europepmc   +1 more source