Publicaciones en colaboración con investigadores/as de Clínica Universitaria de Navarra (33)

2024

  1. The profile of social communication in Dravet syndrome

    Epilepsy and Behavior, Vol. 159

2023

  1. Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679

  2. Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome

    Journal of Molecular Medicine, Vol. 101, Núm. 12, pp. 1587-1601

2022

  1. The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study

    Frontiers in Neurology, Vol. 13

  2. Time to onset of cannabidiol treatment effect and resolution of adverse events in tuberous sclerosis complex: Post hoc analysis of randomized controlled phase 3 trial GWPCARE6

    Epilepsia, Vol. 63, Núm. 5, pp. 1189-1199

2021

  1. Author Correction: Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation (Scientific Reports, (2019), 9, 1, (14172), 10.1038/s41598-019-50627-w)

    Scientific Reports

  2. Neuroplasticity during the transition period: How the adolescent brain can recover from aphasia. A pilot study

    Brain and Development, Vol. 43, Núm. 4, pp. 556-562

  3. Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations

    Molecular Therapy - Nucleic Acids, Vol. 25, pp. 585-602

2019

  1. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

    Scientific Reports, Vol. 9, Núm. 1

  2. New anti-epileptic drugs in Paediatrics

    Anales de Pediatria, Vol. 91, Núm. 6, pp. 415.e1-415.e10

2018

  1. Selective dorsal rhizotomy: A review of the literature on this technique for the treatment of spasticity in infantile cerebral palsy

    Revista de Neurologia, Vol. 66, Núm. 11, pp. 387-394

2016

  1. La adaptación al castellano de la Children’s Communication Checklist permite detectar las dificultades en el uso pragmático del lenguaje y diferenciar subtipos clínicos

    Revista de Neurologia, Vol. 62, pp. S49-S57

2015

  1. Electrical status epilepticus during sleep: A retrospective multi-centre study of 29 cases

    Revista de Neurologia, Vol. 60, Núm. 3, pp. 99-107

2013

  1. Desarrollo cognitivo en el síndrome de dravet como modelo de encefalopatía epiléptica

    Revista de Neurologia, Vol. 56, Núm. SUPPL. 1

  2. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

    Journal of Medical Genetics, Vol. 50, Núm. 3, pp. 194-197

2012

  1. Dilated vein of Galen in Kabuki syndrome

    Brain and Development, Vol. 34, Núm. 1, pp. 76-79

2011

  1. Early diagnosis of Dravet's syndrome: Contributions from clinical practice and molecular biology

    Revista de Neurologia, Vol. 52, Núm. 11, pp. 681-688

2010

  1. Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

    Genetics in Medicine, Vol. 12, Núm. 8, pp. 532-535

  2. Variability of cognitive development in different types of epilepsy in children

    Revista de Neurologia, Vol. 50, Núm. SUPPL. 3

2009

  1. SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    Epilepsia, Vol. 50, Núm. 7, pp. 1670-1678