Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Curtis R. Coughlin, Laura A. Tseng, Jose E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhas, Peter T. Clayton, Anibh Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma J. Footitt, Sidney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, Rina LiljeNicola Longo, Roelineke J. Lunsing, Philippa Mills, Maria T. Papadopoulou, Phillip L. Pearl, Flavia Piazzon, Barbara Plecko, Arushi G. Saini, Saikat Santra, Damayanti R. Sjarif, Sylvia Stockler-Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven-Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara D.M. van Karnebeek

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry

Neuroscience