Publications (88) Rocío Sánchez-Carpintero Abad publications

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2025

  1. Delphi consensus on referral criteria for pediatric patients with suspected Dravet syndrome

    Epilepsy and Behavior, Vol. 167

  2. Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

    American Journal of Medical Genetics, Part A

  3. Expert-Agreed Practical Recommendations on the Use of Fenfluramine in Developmental and Epileptic Encephalopathies Based on Clinical Experience and Literature Review

    Neurology and Therapy, Vol. 14, Núm. 2, pp. 447-465

  4. Use of Stiripentol in Patients with Dravet Syndrome: Common Practice Among Experts in Spain

    Neurology and Therapy, Vol. 14, Núm. 1, pp. 27-43

2024

  1. Brain oscillatory activity evoked by chirp modulated tones in healthy children

    Heliyon, Vol. 10, Núm. 24

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

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

  3. 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. 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