Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

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Date: June 1, 2023
Authors:
Katia Hardies, Yiying Cai, Claude Jardel, Anna Jansen, Mian Cao, Patrick May, Tania Djemie, Caroline Long, Samin A. Sajan, Katherine L. Helbig, Arvid Suls, Rudi Balling, Ingo Helbig, Peter de Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen, Zaid Afawi, Stephanie Bualac, Nina Barisic, Hande Caglayan, Dana Craiu, Carolien G F de Kovel, Rosa Guerrero Lopez, Renzo Guerrini, Helle Hjalgrim, Holger Lerche, Johanna Jahn, Karl Martin Klein, Bobby P. C. Koeleman, Eric LeGuern, Johannes R. Lemke, Carla Marini, Hiltrud Muhle, Felix Rosenow, Jose M. Serratosa, Katalin Sterbova, Rikke S. Møller, Aarno Palotie, Pasquale Striano, Yvonne G. Weber, Federico Zara
Journal: Brain : a journal of neurology
Journal Volume: 139