Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

  • Amato ME, Frías M, Cerisola A, Roldan-Molina M and Ortigoza-Escobar JD.

    Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility

    CLINICAL GENETICS . 108(6): 708-712.

    [doi:10.1111/cge.14774]

  • Nou-Fontanet L, Ousingsawat J, Aziz M, Maroofian R, Karimiani EG, Fernández-López A, Candela-Cantó SA, Rumià J, Dominguez AM, Schreiber R, Kunzelmann K and Ortigoza-Escobar JD.

    Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation

    PEDIATRIC NEUROLOGY . 172: 46-52. Nº de citas: 1

    [doi:10.1016/j.pediatrneurol.2025.07.020]

  • Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.

    Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy

    NEUROBIOLOGY OF DISEASE . 216: 107098-107098.

    [doi:10.1016/j.nbd.2025.107098]

  • Cobo-Cobo T, Aldecoa V, Ferrero-Martinez SI, Balcells J, Contreras AL, Valenzuela Palafoll Anna, Pastor M, Boada D, Herranz-Barbero A, Izquierdo-Renau M, Murillo C, Río AD, Hernández-Meneses M, Fidalgo B, Rodriguez-Reyes M, Figueras-Retuerta F, Gratacós E and Palacio-Navarro A.

    Preterm prelabor rupture of membranes: the use of amniocentesis to detect intraamniotic infection reduces maternal and neonatal duration of antibiotic exposure

    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY . 233(5): 4771-47711.

    [doi:10.1016/j.ajog.2025.06.011]

  • Bernardi, K, Ortigoza-Escobar JD, Domínguez-Carral J, Espinoza-Quinteros, I, Mendo, LD, Koy, A and Thiel, M.

    Severe upper airway dysfunction in GNAO1-related disorders

    Italian Journal of Pediatrics . 51(1): .

    [doi:10.1186/s13052-025-02150-0]

  • Salazar L, Goncé A, Matas I, Balcells J, García-Otero L, Fortuny-Guasch C, Torres B, González-Cordón A, Palacio-Navarro A, Gratacós E, Figueras-Retuerta F, Crispi F and López M.

    Two Decades of Change: Evolving Maternal Characteristics and Perinatal Outcomes in Pregnant Women Living with HIV.

    Viruses-Basel . 17(11): .

    [doi:10.3390/v17111425]

  • Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.

    Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers

    Movement Disorders Clinical Practice . 12(10): 1615-1621.

    [doi:10.1002/mdc3.70102]

  • Fons-Estupina C, Ge YH, Rasmussen LK, Shi YS and Bayat A.

    Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2025-110855]

  • Nou-Fontanet L, Musokhranova U, Ramírez-Camacho A, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Garcia-Cazorla A, De Oyarzabal-Sanz AL and Fons-Estupina C.

    AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 58: 20-26. Nº de citas: 1

    [doi:10.1016/j.ejpn.2025.07.007]

  • Maroofian R, Ortigoza-Escobar JD, Rohilla P, Alvi JR, Mushiba AM, Almontashiri NAM, Efthymiou S, Sultan T, Balla T and Houlden H.

    Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

    MOVEMENT DISORDERS . : 2243-2250.

    [doi:10.1002/mds.30286]