Publications
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Nou-Fontanet L, Cantalupo G, Braun F, Ramírez-Camacho A, González V, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A and Fons-Estupina C.
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum
Orphanet Journal of Rare Diseases . 21(1): .
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Nou-Fontanet L, Muñoz-Puga N, Madrigal I, Arca-Diaz G, Alonso-Colmenero I, Artuch-Iriberri R and Fons-Estupina C.
The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.
EPILEPTIC DISORDERS . 28(2): 505-511.
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Dorris L, Aras LM, Danse M, Benzler N, Camus CH, Darra F, Fons-Estupina C, Robinson R, Holert N, Afonso P, Hugon P, Gaberscek S, Nardi L, Specchio N and Nabbout R.
The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research
EPILEPSY & BEHAVIOR . 174: 110809-110809.
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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 . 62(12): 808-811. Number of citations: 1
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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. Number of citations: 1
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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: 2
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Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons-Estupina C, Anticona-Huaynate J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA and Landstrom AP.
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias
JAMA Pediatrics . 179(5): 529-539. Number of citations: 8
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Borrell-Pichot M, Fons-Estupina C, Boronat S and Sierra-Marcos A.
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
Epilepsia Open . 10(1): 342-347. Number of citations: 1
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451. Number of citations: 6
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Serafim AB, Olivé-Cirera G, Ortega-González Á, Kruer MC, Weese-Mayer D, Rand CM, Fons-Estupina C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangue-Salvador T and Sabater L.
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome
Neurology-Neuroimmunology & Neuroinflammation . 11(5): . Number of citations: 9
