Publicaciones

1) Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional
STXBP1-Ohtahara_2014_Serratosa

2) De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy (2008) – H. Saitsu et cols.
https://www.ncbi.nlm.nih.gov/pubmed/18469812

3) Paternal mosaicism of an STXBP1 mutation in OS (2011) – Saitsu et cols.
https://www.ncbi.nlm.nih.gov/pubmed/21062273

4) Haploinsufficiency of STXBP1 and Ohtahara syndrome (2012) – Saitsu et cols.
https://www.ncbi.nlm.nih.gov/pubmed/22787616

5) STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy (2016) – Stamberger et cols.
https://www.ncbi.nlm.nih.gov/pubmed/26865513

6) Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases (2015) – Di Meglio et cols.
https://www.ncbi.nlm.nih.gov/pubmed/26514728

7) Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome (2015) – Olson et cols.
https://www.ncbi.nlm.nih.gov/pubmed/25914188

8) Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome (2015) – Ortega-Moreno et cols.
https://www.ncbi.nlm.nih.gov/pubmed/25631041

9) Molecular characterization of a cohort of 73 patients with infantile spasms syndrome (2015) – Boutry-Kryza et cols.
https://www.ncbi.nlm.nih.gov/pubmed/25497044

10) GABRA1 and STXBP1: novel genetic causes of Dravet syndrome (2014) – Carvill et cols.
https://www.ncbi.nlm.nih.gov/pubmed/24623842

11) Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders (2014) – Hussain.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912442/

12) STXBP1 Encephalopathy with Epilepsy (2016) – Khaikin et col.
https://www.ncbi.nlm.nih.gov/pubmed/27905812

13) Encefalopatía STXBP1: un complejo trastorno del desarrollo neurológico con epilepsia y mucho más (Dr. J.Parra) Julio 2017
http://www.epilepsiamadrid.com/encefalopatia-stxbp1-un-complejo-trastorno-del-desarrollo-neurologico-con-epilepsia-y-mucho-mas/

14) Las dos dimensiones de STXBP1 (Dr. Ingo Helbig) Febrero 2016 (traducción Asociación Síndrome STXBP1)
https://www.facebook.com/notes/asociación-s%C3%ADndrome-stxbp1/las-dos-dimensiones-de-stxbp1-2016/349101052089284/