Results 111 to 120 of about 3,050,482 (146)

Feasibility of newborn screening for pyridoxine-dependent epilepsy. [PDF]

Mol Genet Metab
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM, Coughlin CR.   +9 more
europepmc   +1 more source

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy. [PDF]

Mol Ther Nucleic Acids
Schuurmans IME, Engelke U, Abedrabbo M, Puvogel S, Mijdam R, Scholten GJ, van Katwijk SB, Oudakker A, Al-Shekaili HH, Lefeber DJ, Leavitt BR, van Karnebeek CDM, Nadif Kasri N, Garanto A.   +13 more
europepmc   +1 more source

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse. [PDF]

Brain Commun
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P, Leuchtenberger S, Fuchs H, Hrabě de Angelis M, Wevers RA, Coughlin CR, Lefeber DJ.   +12 more
europepmc   +1 more source

Report of the 2003 National Conference on Public Health and Epilepsy [PDF]

I. Executive Summary -- II. Introduction -- III. Living Well with Epilepsy II Conference -- -- IV. Review and Recommendations -- -- Workgroup A: Early Recognition, Diagnosis and Treatment -- -- Workgroup B: Epidemiology and Surveillance -- -- Workgroup C:
National Conference on Public Health and Epilepsy (2003 : Baltimore, MD)
core  

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in <i>ALDH7A1</i>: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment. [PDF]

Ther Adv Rare Dis
Ambrose A, McCabe M, Bahl S, Sinasac D, Snyder T, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations. [PDF]

Oxf Med Case Reports, 2020
Dowa Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M.   +5 more
europepmc   +1 more source

Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Wu J, Qin D, Liang Z, Liu Q, Wang M, Guo Y, Guo W.   +6 more
europepmc   +1 more source

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