Results 81 to 90 of about 1,711 (154)

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

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2023
Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T.   +7 more
europepmc   +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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]

Mov Disord Clin Pract, 2023
Saini L, Krishna D, Gunasekaran PK, Tiwari S, Kumar P.   +4 more
europepmc   +1 more source

Pyridoxine Dependent Epilepsy: Enduring Mystery and Continuing Challenges [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Prasad, Asuri, Prasad, Chitra
openaire   +3 more sources

Pyridoxine-dependent epilepsy [PDF]

, 2020
openaire   +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