Results 111 to 120 of about 1,711 (154)

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

Pyridoxine-Dependent Epilepsy

, 2019
openaire   +2 more sources

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

Drug-Resistant Epilepsy or Pyridoxine-Dependent Epilepsy: A Dilemma

International Journal of Epilepsy
Surekha Dabla, Neeraj Kumar
openaire   +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

Some of the next articles are maybe not open access.

Related searches:

Novel mutations in pyridoxine-dependent epilepsy

European Journal of Paediatric Neurology, 2011
Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.We describe PDE in a ...
Sophie Hamelin, G S Salomons
exaly   +7 more sources