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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer, Kim M; Driedger, Jan H; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M H; Debus, Otfried M; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Löhr-Nilles, Christa; Martin, Peter; Garbade, Sven F; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schröter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan.
Affiliation
  • Thalwitzer KM; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Driedger JH; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Xian J; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Saffari A; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Zacher P; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Bölsterli BK; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Ruggiero SM; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Sullivan KR; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Datta AN; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Kellinghaus C; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Althaus J; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Wiemer-Kruel A; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • van Baalen A; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Pampel A; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Alber M; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Braakman HMH; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Debus OM; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Denecke J; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Hobbiebrunken E; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Breitweg I; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Diehl D; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Eitel H; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Gburek-Augustat J; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Preisel M; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Schlump JU; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Laufs M; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Mammadova D; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Wurst C; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Prager C; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Löhr-Nilles C; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Martin P; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Garbade SF; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Platzer K; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Benkel-Herrenbrueck I; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Egler K; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Fazeli W; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Lemke JR; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Runkel E; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Klein B; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Linden T; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Schröter J; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Steffeck H; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Thies B; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • von Deimling F; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Illsinger S; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Borggraefe I; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Classen G; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Wieczorek D; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Ramantani G; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
  • Koelker S; From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (
Neurology ; 101(9): e879-e891, 2023 08 29.
Article in En | MEDLINE | ID: mdl-37407264
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Full text: 1 Database: MEDLINE Main subject: Spasms, Infantile / Epilepsy Type of study: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Child, preschool / Humans Language: En Journal: Neurology Year: 2023 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Spasms, Infantile / Epilepsy Type of study: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Child, preschool / Humans Language: En Journal: Neurology Year: 2023 Type: Article