Publikationen (80) Publikationen von Rocío Sánchez-Carpintero Abad

2024

  1. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

    Brain, Vol. 147, Núm. 5, pp. 1653-1666

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. Patient profile, management, and quality of life associated with Dravet syndrome: a cross-sectional, multicentre study of 80 patients in Spain

    Scientific Reports, Vol. 13, Núm. 1

  3. 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

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

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

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. The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis

    Epilepsy and Behavior, Vol. 132

  3. 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

  4. Valoración de un programa de intervención en habilidades motrices en el trastorno de aprendizaje procedimental

    Avances en Ciencias de la Educación y Aplicaciones en otra áreas (Dykinson), pp. 266

2021

  1. Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial

    Epilepsia, Vol. 62, Núm. 10, pp. 2505-2517

  2. 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

  3. Cannabidiol for the treatment of lennox-gastaut syndrome and dravet syndrome: Experts' recommendations for its use in clinical practice in spain

    Revista de Neurologia, Vol. 73, Núm. S01, pp. S1-S8

  4. El análisis pormenorizado del Childhood Autism Spectrum Test CAST permite diferenciar subtipos clínicos con dificultades en la comunicación social

    European journal of education and psychology, Vol. 14, Núm. 2

  5. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

  6. 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

  7. Preferences of the students of the Medicine Degree in relation to the use of social networks as an education tool

    Educacion Medica, Vol. 22, Núm. 5, pp. 251-255

  8. 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

2020

  1. Abnormal brain gamma oscillations in response to auditory stimulation in Dravet syndrome

    European Journal of Paediatric Neurology, Vol. 24, pp. 134-141

  2. Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial

    JAMA Neurology

  3. Fenfluramine for Treatment-Resistant Seizures in Patients with Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

    JAMA Neurology, Vol. 77, Núm. 3, pp. 300-308