Results 81 to 90 of about 1,661 (121)

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

Vitamin K as an add-on therapy in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Houten SM.
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

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

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