Results 141 to 150 of about 1,906 (168)

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

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

Cycles in epilepsy

Nature Reviews Neurology, 2021
Philippa Jane Karoly, Vikram R Rao, Nicholas M Gregg   +2 more
exaly  

The metabolic basis of epilepsy

Nature Reviews Neurology, 2022
Jong M Rho, Detlev Boison
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

The role of inflammation in epilepsy

Nature Reviews Neurology, 2010
Annamaria Vezzani, Jacqueline A French, Tallie Z Baram   +2 more
exaly  

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Nature Medicine, 2015
Hoon-Chul Kang, Se-Hoon Kim, Eun Kyung Park   +2 more
exaly  

Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy

Nature Reviews Neurology, 2019
Annamaria Vezzani, Silvia Balosso, Teresa Ravizza   +2 more
exaly  

Epilepsy

Nature Reviews Disease Primers, 2018
Orrin Devinsky, Annamaria Vezzani, Terence J O'brien   +2 more
exaly  

An astrocytic basis of epilepsy

Nature Medicine, 2005
Takahiro Takano
exaly