Results 41 to 50 of about 3,050,482 (146)

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

, 2023
Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants.
Gerstner, Thorsten Alfons, Kristensen, Erle, Jamali, Ahmed, Sikric, Alma, Kupliauskiene, Guste, Bindoff, Laurence Albert, Hassel, Bjørnar, Berland, Siren, Tangeraas, Trine, Sejersted, Yngve, Myren-Svelstad, Sverre, Arntsen, Vibeke, Brodtkorb, Eylert August, Yngve Sejersted, Guste Kupliauskiene, Ahmed Jamali, Thorsten Gerstner, Trine Tangeraas, Vibeke Arntsen, Alma Sikiric, Laurence A. Bindoff, Bjørnar Hassel, Sverre Myren-Svelstad, Eylert Brodtkorb, Siren Berland, Erle Kristensen   +25 more
core   +1 more source

Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series

Journal of the Pakistan Medical Association
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder. Several genes involved in Pyridoxine (B6) metabolism have been implicated in the pathogenesis of PDE, two such genes are Aldehyde Dehydrogenase 7 Family Member A1 (ALDH7A1) and ...
Ali Hyder Nazeer, Durray Shahwar Abid Khan, Prem Chand   +2 more
doaj   +1 more source

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

, 2005
Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with ...
Plecko, B;Hikel, C;Korenke, GC;Schmitt, B;Baumgartner, M;Baumeister, F;Jakobs, C;Struys, E;Erwa, W;Stöckler-Ipsiroglu, S
core   +1 more source

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

Stem Cell Research, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

Neonatal Hypoglycemia, Lactic Acidosis, and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2012
Researchers at the University of Toronto, Canada report the case of a 13-month-old girl with neonatal hypoglycemia, lactic acidosis, and bilateral symmetrical temporal lobe hemorrhages and thalamic changes on cranial MRI.
J Gordon Millichap
doaj   +1 more source

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency. [PDF]

Genetics, 2017
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin ...
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.   +16 more
europepmc   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Long-term outcome in pyridoxine-dependent epilepsy.

, 2012
Item does not contain fulltextAim The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied. Method Fourteen patients recruited from a national
Hoeven, J.H. van, Bok, Levinus A., Struys, Eduard, CORNELIS JAKOBS, Halbertsma, Feico J., Houterman, Saskia, Willemsen, Michel A., RON A WEVERS, MICHÈL A WILLEMSEN, SASKIA HOUTERMAN, Vreeswijk, C., Willemsen, M.A.A.P., Sival, Deborah A., LEVINUS A BOK, Houterman, S., FEICO J HALBERTSMA, Vreeswijk, Charlotte, Jakobs, Cornelis, Van der Hoeven, Johan H., Wevers, R.A., EDUARD STRUYS, JOHAN H VAN DER HOEVEN, Halbertsma, F.J., Sival, D.A., van der Hoeven, J.H., DEBORAH A SIVAL, Struys, E., Vreeswijk, C.M.J.M., Jakobs, C., Wevers, Ron A., Willemsen, M.A., CHARLOTTE VREESWIJK, Bok, L.A.   +32 more
core   +1 more source