Results 161 to 170 of about 3,547 (200)

High frequency deep brain stimulation of the hippocampus in a rat model for temporal lobe epilepsy [PDF]

, 2006
Boon, Paul, CLAEYS, P, De Smedt, Tim, Leybaert, Luc, Mabilde, Cyriel, Raedt, Robrecht, Van den broecke, Caroline, Wadman, Wytse, Waterschoot, Liesbeth, Wyckhuys, Tine   +9 more
core   +1 more source

Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. [PDF]

Exp Ther Med, 2017
Wang S, Sun J, Tu Y, Zhu L, Feng Z.
europepmc   +1 more source

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

PLoS One, 2017
Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.   +8 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

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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 ...
Millet, Arnaud, Salomons, Gajja, Cneude, Fabrice, Corne, Christelle, Debillon, Thierry, Jakobs, Cornelis, Struys, Eduard, Hamelin, Sophie   +7 more
openaire   +7 more sources

Pyridoxine dependent epilepsy and antiquitin deficiency

Molecular Genetics and Metabolism, 2011
Sylvia Stockler, Barbara Plecko, Sidney M. Gospe, Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein, Cornelis Jakobs, Peter Clayton, Johan L.K. Van Hove   +13 more
openaire   +3 more sources

Gene sleuthing in pyridoxine-dependent epilepsy

Neurology, 2015
Epilepsies caused by inborn errors of metabolism consist of a broad range of diseases, typically with early life onset and often associated with progressive encephalopathy. Early recognition and targeted therapy are key to improved outcomes in several metabolic epilepsies, including those related to the pyridoxal vitamer dependencies.
Weckhuysen, Sarah, Pearl, Phillip L.
openaire   +3 more sources

Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report

Pediatric Neurology, 2023
Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is a wide spectrum of clinical manifestations, and in the absence of biochemical markers, clinical diagnosis is often delayed.
Avantika Chauhan, Shalini Tripathi, Mala Kumar   +2 more
openaire   +2 more sources