STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

  title={STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.},
  author={Hannah Stamberger and Marina Nikanorova and Marjolein H. Willemsen and Patrizia Accorsi and Marco Angriman and Hartmut Baier and Ira Benkel-Herrenbrueck and Val{\'e}rie Benoit and Mauro Budetta and Almuth Caliebe and Gaetano Cantalupo and Giuseppe Capovilla and Gianluca Casara and Carolina Courage and Marie Deprez and Anne Destr{\'e}e and Robertino Dilena and Corrie E. Erasmus and Madeleine Fannemel and Roar Fj{\ae}r and Lucio Giordano and Katherine L Helbig and Henrike O. Heyne and Joerg Klepper and Gerhard Josef Kluger and Damien Lederer and Monica Lodi and Oliver Maier and Andreas Merkenschlager and Nina Michelberger and Carlo Minetti and Hiltrud Muhle and Judith Phalin and Keri Ramsey and Antonino Romeo and Jens C Schallner and Ina Schanze and Marwan Shinawi and Kristel Sleegers and Katalin {\vS}těrbov{\'a} and Steffen Syrbe and Monica Traverso and Andreas Tzschach and Peter Vilhelm Uldall and Rudy Noel Van Coster and Hel{\`e}ne Verhelst and Maurizio Viri and Susan P Winter and Markus Wolff and Martin Zenker and Leonardo Zoccante and Peter de Jonghe and Ingo Helbig and Pasquale Striano and Johannes R Lemke and Rikke Steensbjerre M\oller and Sarah Weckhuysen},
  volume={86 10},
OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. RESULTS We describe the phenotypic features of… CONTINUE READING