Research

Epilepsy and movement disorders in Pediatrics

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Publications

  • Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

    Frontiers in Genetics . 13: 652454-652454. Number of citations: 26

    [doi:10.3389/fgene.2022.652454]

  • Aparicio J, Niñerola-Baizán A, Perissinotti A, Rubí S, Muchart-Lopez J, Candela-Cantó SA, Campistol-Plana J and Setoain X.

    Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET*

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 97: 43-49. Number of citations: 3

    [doi:10.1016/j.seizure.2022.03.010]

  • Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.

    The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Number of citations: 3

    [doi:10.1016/j.ejmg.2022.104442]

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.

    Cerebrospinal Fluid Ion Analysis in Neonatal Seizures

    PEDIATRIC NEUROLOGY . 128: 16-19. Number of citations: 2

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Nguyen QTR, Ortigoza-Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB and Bachoud-Lévi AC.

    Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

    FRONTIERS IN NEUROLOGY . 13: 817753-817753. Number of citations: 3

    [doi:10.3389/fneur.2022.817753]

  • Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.

    Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells

    Movement Disorders Clinical Practice . 9(2): 252-254. Number of citations: 1

    [doi:10.1002/mdc3.13391]

  • Boßelmann CM, San Antonio-Arce MV, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y and Wolking S.

    Genetic testing before epilepsy surgery-An exploratory survey and case collection from German epilepsy centers

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 95: 4-10. Number of citations: 17

    [doi:10.1016/j.seizure.2021.12.004]

  • Schijns Olaf EMG, Delev D, von Lehe M, van Roost D, Rössler K, Theys T, Auer C, Blauwblomme T, Budke M, Campos AR, Candela-Cantó SA, Seromenho-Santos A and Fountas K.

    Functional hemispheric disconnection procedures for chronic epilepsy: history, indications, techniques, complications and current practice in Europe. A consensus statement on behalf of the EANS functional neurosurgery section

    Brain and Spine . 4: 102754. Number of citations: 4

    [doi:https://doi.org/10.1016/j.bas.2024.102754]