Publications
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Saez-Matia A, Ibarluzea MG, M-Alicante S, Muguruza-Montero A, Nuñez E, Ramis R, Ballesteros OR, Lasa-Goicuria D, Fons-Estupina C, Gallego M, Casis O, Leonardo A, Bergara A and Villarroel A.
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): .
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de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons-Estupina C, López Pisón J and Ortigoza-Escobar JD.
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Movement Disorders Clinical Practice . 10(11): 1671-1679.
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Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.
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Patel, Shital H., Panagiotakaki, Eleni, Papadopoulou, Maria T., Fons-Estupina C, De Grandis, Elisa, Vezyroglou, Aikaterini, Balestrini, Simona, Hong, Hwanhee, Liu, Beiyu, Prange, Lyndsey, Arzimanoglou A, Vavassori, Rosaria and Mikati, Mohamad A..
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease
JOURNAL OF CHILD NEUROLOGY . 38(10-12): 597-610. Number of citations: 2
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Schluter, Agatha, Velez-Santamaria, Valentina, Verdura, Edgard, Rodriguez-Palmero, Agusti, Ruiz, Montserrat, Fourcade, Stephane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martinez, Juan Jose, Homedes-Pedret, Christian, Alberti-Aguilo, M. Antonia, Zulaika, Miren, Marti, Itxaso, Troncoso, Monica, Tomas-Vila, Miguel, Bullich, Gemma, Garcia-Perez, M. Asuncion, Sobrido-Gomez, Maria-Jesus, Lopez-Laso, Eduardo, Fons-Estupina C, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutierrez-Solana, Luis G., Perez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo Lopez, Casasnovas, Carlos, Pujol, Aurora and HSP Ataxia Workgrp.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
GENOME MEDICINE . 15(1): .
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Sentmanat MK, Papadopoulou MT, Prange L, Fons-Estupina C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S, Arzimanoglou A, Vavassori R, Panagiotakaki E and Mikati MA.
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 46: 98-107. Number of citations: 1
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Paliotti, K, Dassi, C, Berrahmoune, S, Bejaran, ML, Carlos Valera Dávila, Borras-Martinez A, Fons-Estupina C, Mancardi, MM, Riva, A, Giacomini, T, Severino, M, Romaniello, R, Dubeau, F, Srour, M and Myers, KA.
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
JOURNAL OF NEUROLOGY . 270(8): 3934-3945.
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15.
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Brunklaus A, Brünger T, Feng T, Fons-Estupina C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M and Cestèle S.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
BRAIN . 145(11): 3816-3831. Number of citations: 23
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Chávez López EK, Aparicio J, Carlos Valera Dávila, Campistol-Plana J, Ramírez-Camacho A, Fons-Estupina C and Arzimanoglou A.
Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 41: 55-62.