Publicaciones en colaboración con investigadores/as de Clínica Universitaria de Navarra (32)

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

2008

  1. Cognitive disorders associated with epilepsy: Diagnosis and treatment

    Neurologist, Vol. 14, Núm. 6 SUPPL. 1