Neurology

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

  • 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
  • Collaborators: EuroEPINOMICS, European Science Foundation
  • Journal: Brain : a journal of neurology
  • Date: 2016 - Sep
  • Topics: Gene Characterization Phenotype Characterization

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