Results 91 to 100 of about 1,906 (168)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2000
Editor—There are several problems with describing the electroclinical pattern in pyridoxine dependent seizures.1 One is defining the electrical features. Until now all published reports (including four of the five cases of Nabbout and colleagues) have described the electroencephalogram (EEG) in neonates who have received other anticonvulsants ...
openaire   +1 more source

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology & Metabolism, 2016
Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation.
Pena, Izebella Agostinho, Mackenzie, Alex, van Karnebeek, Clara D. M.   +2 more
openaire   +2 more sources

Neuropathological mechanisms of seizures in autism spectrum disorder

Frontiers in Neuroscience, 2016
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and -aminobutyric acid (GABA). The peripheral
Richard Eugene Frye, Manuel eCasanova, S Hossein eFatemi, Timothy eFolsom, Teri J Reutiman, Gregory Laurence Brown, Stephen M. Edelson, John eSlattery, James Brewster Adams   +8 more
doaj   +1 more source

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

JIMD Reports, 2019
Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg   +10 more
doaj   +1 more source

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy [PDF]

Annals of Child Neurology, 2022
Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option [PDF]

, 2013
Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú, B. Merinero, Patricia Yuste‐Checa, Pedro Ruiz‐Sala, Rocío Calvo, Anil Jalan, Laura López Marín, Oscar Campos, María Ángeles Ruiz, Marta San Miguel, María Eugenia Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes R. Desviat, Pablo Lapunzina, Magdalena Ugarte, Celia Pérez‐Cerdá   +19 more
openalex   +1 more source

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2022
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium.   +23 more
europepmc   +1 more source

2025 ACVIM Forum Research Abstract Program

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
wiley   +1 more source