Results 101 to 110 of about 1,711 (154)

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 more
europepmc   +1 more source

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study. [PDF]

Front Neurol
Yu X, Zhang X, Qiu S, Yang L, Li X, Shi D.   +5 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

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

Pyridoxine-dependent Epilepsy – Case Reports

Česká a slovenská neurologie a neurochirurgie, 2017
Štefánia Aulická, Lenka Fajkusová, P. Šilerová, Lia Elstnerová, František Jimramovský, Eva Dortová, Hana Ošlejšková   +6 more
openaire   +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