Results 131 to 140 of about 1,711 (154)

Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations

Epileptic Disorders, 2009
ABSTRACT Objective Pyridoxine‐dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. Materials and methods
Georges, Naasan, Mohamad, Yabroudi, Amal, Rahi, Mohamad A, Mikati   +3 more
openaire   +2 more sources

Roth spots in pyridoxine dependent epilepsy.

BMJ case reports, 2013
Pyridoxine dependent epilepsy (PDE) is a rare metabolic defect in the degradation of lysine. The authors report a patient with metabolic and DNA confirmed PDE, on the fifth day of life ophthalmoscopy showed bilateral multiple white centred retinal haemorrhages, so called Roth spots. Roth spots are non-specific haemorrhagic signs that occur in a variety
Levinus A, Bok, Feico, Halbertsma, Frank, Kerkhoff, Cornelis, Jakobs, Carola, Duijsters, Michèl, Willemsen   +5 more
openaire   +1 more source

Natural history of pyridoxine‐dependent epilepsy: tools for prognostication

Developmental Medicine & Child Neurology, 2012
This commentary is on the original article by Bok et al. on pages 849‐854 of this issue.
openaire   +2 more sources

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2021
Anibh Martin Das, Peter Clayton, Sidney M Gospe   +2 more
exaly  

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2022
Sidney M Gospe, Sabine Grønborg, Curtis Coughlin   +2 more
exaly  

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Brain Sciences, 2022
Justyna Paprocka, Renata PAJĄK, Konrad Kaminiów   +2 more
exaly  

Pyridoxine-Dependent Epilepsy With Carnitine Deficiency

[Abtract Not Available]
Dundar, N. Olgac, Cavusoglu, D., Arican, P., Gencpinar, P.   +3 more
openaire   +1 more source

Pyridoxine-dependent epilepsy: case report

Neuropediatrics, 2013
H Schober, K Konzett, J Lütschg, E Paschke, B Plecko, B Simma   +5 more
openaire   +1 more source

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology and Metabolism, 2017
, Clara Van Karnebeek
exaly  

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   +1 more source