Results 101 to 110 of about 1,906 (168)

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study

, 2023
Ahmed Jamali, Erle Kristensen, Trine Tangeraas, Vibeke Arntsen, Alma Sikiric, Guste Kupliauskiene, Sverre Myren‐Svelstad, Siren Berland, Yngve Sejersted, Thorsten Gerstner, Bjørnar Hassel, Laurence A. Bindoff, Eylert Brodtkorb   +12 more
openalex   +2 more sources

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study [PDF]

, 2021
Marin Strijker, Laura A. Tseng, Lisanne K van Avezaath, Maureen A. M. Oude Luttikhuis, Thomas Ketelaar, Curtis R. Coughlin, Maraike A. Coenen, Francjan J. van Spronsen, Monique Williams, Maaike C. de Vries, Henriëtte E. Westerlaan, Levinus A. Bok, Clara D.M. van Karnebeek, Roelineke J. Lunsing   +13 more
openalex   +1 more source

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

Annals of the Child Neurology Society
Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen   +6 more
doaj   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Roth spots in pyridoxine dependent epilepsy: Figure 1 [PDF]

, 2011
Levinus A. Bok, Feico J. J. Halbertsma, F T Kerkhoff, C. Jakobs, Carola E. P. M. Duijsters, Michèl A.A.P. Willemsen   +5 more
openalex   +1 more source

Pyridoxine responsive epilepsy: expanded pyridoxine dependency? [PDF]

Archives of Disease in Childhood, 1983
J B Stephenson, K E Byrne
openaire   +1 more source

Pyridoxine-dependent Epilepsy – Case Reports

Česká a slovenská neurologie a neurochirurgie, 2017
Štefánia Aulická, Lenka Fajkusová, P. Šilerová, Lia Elstnerová, František Jimramovský, Eva Dortová, Hana Ošlejšková   +6 more
openaire   +1 more source

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]

, 2018
Ziyad S. Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Éliane Chouery, André Mégarbané   +5 more
openalex   +1 more source

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. [PDF]

J Clin Invest, 2021
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL.   +30 more
europepmc   +1 more source

Pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non‐specific EEG characteristics [PDF]

, 2010
Sídney M. Gospe
openalex   +1 more source