Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2023

  1. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2020

  1. Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome

    International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11

2008

  1. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression

    Human Genetics, Vol. 123, Núm. 1, pp. 41-53