Publicaciones

  1. Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency
  2. Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional
  3. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy (2008) – H. Saitsu et cols
  4. Paternal mosaicism of an STXBP1 mutation in OS (2011) – Saitsu et cols
  5. Haploinsufficiency of STXBP1 and Ohtahara syndrome (2012) – Saitsu et cols
  6. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy (2016) – Stamberger et cols
  7. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases (2015) – Di Meglio et cols
  8. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome (2015) – Olson et cols
  9. Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome (2015) – Ortega-Moreno et cols
  10. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome (2015) – Boutry-Kryza et cols
  11. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome (2014) – Carvill et cols
  12. Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders (2014) – Hussain
  13. STXBP1 Encephalopathy with Epilepsy (2016) – Khaikin et col
  14. Encefalopatía STXBP1: un complejo trastorno del desarrollo neurológico con epilepsia y mucho más (Dr. J.Parra) Julio 2017
  15. Las dos dimensiones de STXBP1 (Dr. Ingo Helbig) Febrero 2016 (traducción Asociación Síndrome STXBP1)