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

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

Summary Purpose Pyridoxine‐dependent epilepsy seizure ( PDE ; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically with pyridoxine. In the majority of patients with PDE , the disorder is caused by the deficient activity of the enzyme α‐aminoadipic semia...

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Główni autorzy: 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
Format: Artigo
Język:angielski
Wydane: 2013
Dostęp online:https://doi.org/10.1111/epi.12083
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.12083
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https://doi.org/10.1111/epi.12083
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.12083

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