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

doi:10.1111/epi.12083

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

Epilepsia - 1 Feb 2013

Pérez Belén, Gutiérrez-Solana Luis González, Verdú Alfonso, Merinero Begoña, Yuste-Checa Patricia, Ruiz-Sala Pedro, Calvo Rocio, Jalan Anil, Marín Laura López, Campos Oscar, Ruiz Maria Ángeles, San Miguel Marta, Vázquez Maria, Castro Margarita, Ferrer Isaac, Navarrete Rosa, Desviat Lourdes Ruiz, Lapunzina Pablo, Ugarte Magdalena, Pérez-Cerdá Celia

Abstract excerpt

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 semialdehyde dehydrogenase (antiquitin protein), which is encoded by the ALDH7A1 gene. The aim of this work was the clinical,...

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PMID: 23350806
DOI: 10.1111/epi.12083

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