Publications
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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.
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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.
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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): .
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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.
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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 . : .
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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. Number of citations: 1
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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.
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Irelli, EC, Mazzeo, A, Caraballo, RH, Perulli, M, Moloney, PB, Pena-Ceballos, J, Rubino, M, Mieszczanek, KM, Santangelo, A, Licchetta, L, De Giorgis, V, Valenzuela, GR, Casellato, S, Cesaroni, E, Operto, FF, Domínguez-Carral J, Ramírez-Camacho A, Ferretti, A, Santangelo, G, Aledo-Serrano, A, Rueegger, A, Mancardi, MM, Prato, G, Riva, A, Bergonzini, L, Cordelli, DM, Bonanni, P, Bisulli, F, Di Gennaro, G, Matricardi, S, Striano, P, Delanty, N, Marini, C, Battaglia, D, Di Bonaventura, C, Ramantani, G, Gardella, E, Orsini, A and Coppola, A.
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study
Epilepsia . 66(7): 2253-2267. Number of citations: 5
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De la Rosa SO, Rizzo V, Jauss RT, Bartolomaeus T, Escolar M, Bernard G, Gavrilova R, Ahrens-Nicklas R, Lemire G, Boycott KM, Mercimek-Andrews S, Prontera P, Costa C, Rakic B, Boerkoel CF, Huynh S, Huh L, Sherr E, Argilli E, Ortigoza-Escobar JD, Casas-Alba D, Nunes T, Koolen DA, Platzer K, Khinchi MS, Gardella E, Fenger CD, Møller RS and Bayat A.
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Epilepsia . 66(7): 2379-2390.
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Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity
Epilepsia . : .
