Utility and limitations of EEG in the diagnosis and management of ALDH7A1 -related pyridoxine-dependent epilepsy. A retrospective observational study by Arntsen, Vibeke, Jamali, Ahmed, Sikiric, Alma, Kristensen, Erle, Tangeraas, Trine, Kupliauskiene, Guste, Stefansdottir, Sigurbjörg, Bindoff, Laurence A, Sand, Trond, Brodtkorb, Eylert

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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder by Bjørgo, Kathrine, Fjær, Roar, Mørk, Hanne Håberg, Ferdinandusse, Sacha, Falkenberg, Kim D., Waterham, Hans R., Øye, Ane-Marte, Sikiric, Alma, Amundsen, Silja Svanstrøm, Kulseth, Mari Ann, Selmer, Kaja

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Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry by Tomson, Torbjörn, Battino, Dina, Craig, John, Perucca, Emilio, Sabers, Anne, Vajda, Frank, Faravelli, Francesca, Pantaleoni, Chiara, Cabral-Lim, Leonor, Kälviäinen, Reetta, Khomeriki, Ketevan, Kiteva-Trencevska, Gordana, Kochen, Silvia, Martinez Ferri, Meritxell, Milovanović, Maja, Nakken, Karl Otto, Neufeld, Miri, Ohtani, Hideyuki, Schmitz, Bettina, Tettenborn, Barbara, Yu, Hsiang-Yu, Zarubova, Jana, Albretsen, Claus, Barzinji, Ismael, Bohorquez Morera, Natalia, Brodie, Martin J., Brodtkorb, Eylert, Broglio, Laura, Bruun Christensen, Elsebeth, Bušek, Petr, Cagnetti, Claudia, Canevini, Maria Paola, Carius, Astrid, Castro Vilanova, Maria Dolores, Cecconi, Michela, Chang, T-Y, Christensen, Jakob, Dennig, Dieter, Diputado, Brenda, Ertresvåg, Janne Marit, Escartin, Toni, Flügel, Dominique, Forsom Sondal, Birgitte, Foschi, Nicoletta, Franza, Albertina, Fukushima, Katsuyuki, Gambardella, Antonio, Gauffin, Helena, Gjerstad, Leif, Gordon, Lisa, Haggag, Katrine, Halawa, Imad, Heikinheimo-Connell, Terttu, Hendgen, Tim, Hertz, Zarouhi, Hildenhagen, Odo, Hogenesch, Ineke, Huuse Farmen, Anette, Inoue, Yushi, Juhl, Stefan, Kato, Masaaki, Kenou Van Rijckevorssel, Germaine, Kumlien, Eva, Lasch, Theresa, Lindsten, Hans, Listonova, Renata, Lossius, Rasmus, Malmgren, Kristina, Marečková, Iva, Marino, Daniela, Miesczanleh, Katarzyna, Mizobuchi, Masahiro, Mostacci, Barbara, Müffelmann, Birgit, Nilsson, Anders, Oehl, Bernhard, Osseforth, Judith, Paggi, Aldo, Pedersen, Birthe, Petrenaite, Vaiva, Pignatta, Pietro, Pires, Isabel, Pistelli, Alessandra, Riuz Gimenez, Jesús Antonio, Rocchi, Raffaele, Rodam, Lone, Roivainen, Reina, Rytířová, Gisela, Samsonsen, Christian, Saukkonen, Anna Maija, Sikiric, Alma, Sopelana Garay, David, Steinhoff, Bernhard, Strandberg, Maria, Tauboll, Erik, Trivisano, Marina, Turner, Katherine, Worm, Mogens, Zakharia, Elias, Zambrelli, Elena

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Corrigendum to “The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study” [Epilepsy Res. 190 (2023) 107099] by Jamali, Ahmed, Kristensen, Erle, Tangeraas, Trine, Arntsen, Vibeke, Sikiric, Alma, Kupliauskiene, Guste, Myren-Svelstad, Sverre, Berland, Siren, Sejersted, Yngve, Gerstner, Thorsten, Hassel, Bjørnar, Bindoff, Laurence A., Brodtkorb, Eylert

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The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study by Jamali, Ahmed, Kristensen, Erle, Tangeraas, Trine, Arntsen, Vibeke, Sikiric, Alma, Kupliauskiene, Guste, Myren-Svelstad, Sverre, Berland, Siren, Sejersted, Yngve, Gerstner, Thorsten, Hassel, Bjørnar, Bindoff, Laurence A., Brodtkorb, Eylert

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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction by Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

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LossofCBY1resultsinaciliopathycharacterizedbyfeatures ofJoubert syndrome by Epting, Daniel, Senaratne, Lokuliyanage Dona Samudita, Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika Sanjeewani, Larsen, Selma Mujezinovic, Wallmeier, Julia, Bracht, Diana, Frikstad, Kari-Anne, Crowley, Suzanne, SIKIRIC, ALMA, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G, Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S, Omran, Heymut, Davis, Erica E, Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana

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