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C. Fons · SciRah

Researcher profile · Semantic Scholar

C. Fons

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C. Fons — researcher profile on SciRah

h-index: 22
Works: 66
Citations: 1,343

Most-cited papers

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
E. Panagiotakaki, E. De Grandis, M. Stagnaro, E. Heinzen +29 more
2015Orphanet Journal of Rare Diseases162 citations Open access
Semantic Scholar
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A. Brunklaus, Tobias Brünger, Tony Feng, C. Fons +31 more
2022Brain : a journal of neurology146 citations Open access
Semantic Scholar
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
E. Panagiotakaki, G. Gobbi, B. Neville, F. Ebinger +13 more
2010Brain : a journal of neurology145 citations Open access
Semantic Scholar
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Á. Arias, M. Corbella, C. Fons, Á. Sempere +11 more
2007Clinical Biochemistry73 citations
Semantic Scholar
Arginine supplementation in four patients with X-linked creatine transporter defect
C. Fons, Á. Sempere, Á. Arias, A. López-Sala +8 more
2008Journal of Inherited Metabolic Disease60 citations
Semantic Scholar
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
M. Serrano, V. de Diego, J. Muchart, D. Cuadras +18 more
2015Orphanet Journal of Rare Diseases54 citations Open access
Semantic Scholar
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Fatima Jaffer, Andreja Avbersek, R. Vavassori, C. Fons +34 more
2015Brain : a journal of neurology45 citations Open access
Semantic Scholar
Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients
M. Serrano, Cecília Martins, B. Pérez-Dueñas, L. Gómez-López +11 more
2010Journal of Child Neurology41 citations
Semantic Scholar
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
J. García-Villoria, A. Navarro-Sastre, C. Fons, C. Pérez-Cerdá +11 more
2009Clinical Biochemistry41 citations
Semantic Scholar
Craniectomy in herpetic encephalitis.
G. González-Rabelino, C. Fons, A. Rey, I. Roussos +1 more
2008Pediatric Neurology40 citations
Semantic Scholar
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
E. Verdura, C. Fons, A. Schlüter, M. Ruiz +4 more
2019Journal of Medical Genetics39 citations Open access
Semantic Scholar
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
E. De Grandis, M. Serrano, B. Pérez-Dueñas, A. Ormazabal +13 more
2010Journal of Inherited Metabolic Disease39 citations
Semantic Scholar
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
A. Ulate-Campos, C. Fons, R. Artuch, E. Castejón +4 more
2014Pediatric Neurology36 citations Open access
Semantic Scholar
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
F. Cristofoli, Tonya Moss, H. Moore, K. Devriendt +16 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
Creatine Defects and Central Nervous System.
C. Fons, J. Campistol
2016Seminars in Pediatric Neurology32 citations
Semantic Scholar
Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity.
C. François, P. Ripollés, Laura Bosch, A. García-Alix +7 more
2016Cortex; a journal devoted to the study of the nervous system and behavior29 citations Open access
Semantic Scholar
Cardiac phenotype in ATP1A3-related syndromes
S. Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, M. Carboni +50 more
2020Neurology27 citations Open access
Semantic Scholar
Right Structural and Functional Reorganization in Four-Year-Old Children with Perinatal Arterial Ischemic Stroke Predict Language Production
C. François, P. Ripollés, L. Ferreri, J. Muchart +8 more
2019eNeuro26 citations Open access
Semantic Scholar
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
C. Fons, J. Campistol, E. Panagiotakaki, M. Giannotta +14 more
2012European journal of paediatric neurology25 citations
Semantic Scholar
Efficacy and Tolerability of Topiramate in Children Younger Than 2 Years Old
I. Valencia, C. Fons, Sanjeev V. Kothare, D. Khurana +3 more
2005Journal of Child Neurology24 citations
Semantic Scholar
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Montesclaros Hortigüela, A. Fernández-Marmiesse, V. Cantarín, S. Gouveia +8 more
2016Journal of Human Genetics22 citations
Semantic Scholar
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.
C. Fons, P. Rizzu, À. García-Cazorla, L. Martorell +4 more
2012Brain & development (Tokyo. 1979)22 citations
Semantic Scholar
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, E. Cortés-Saladelafont, Marta Molero-Luis, D. Yubero +26 more
2015Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
J. Uchitel, Keri Wallace, Linh M. Tran, Tavis Abrahamsen +18 more
2021Brain Communications20 citations Open access
Semantic Scholar
Epilepsy spectrum in cerebral creatine transporter deficiency
C. Fons, Á. Sempere, F. Sanmartí, Á. Arias +8 more
2009Epilepsia16 citations
Semantic Scholar
Agenesis of Internal Carotid Artery in a Child with Ipsilateral Horner's Syndrome
C. Fons, M. Vasconcelos, M. Vidal, R. Puy +3 more
2009Journal of Child Neurology14 citations
Semantic Scholar
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
J. García-Villoria, L. Gort, I. Madrigal, C. Fons +7 more
2010European Journal of Human Genetics12 citations Open access
Semantic Scholar
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
J. Pijuan, María Rodríguez-Sanz, D. Benito, C. Ortez +11 more
2020Journal of Molecular Diagnostics11 citations Open access
Semantic Scholar
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
N. Juliá-Palacios, Cristina Molina‐Anguita, María Sigatulina Bondarenko, E. Cortés-Saladelafont +6 more
2022Developmental Medicine & Child Neurology10 citations Open access
Semantic Scholar
Broadening the spectrum of neonatal hemochromatosis
D. Casas-Alba, Jordi Clotet, E. Inarejos, C. Jou +2 more
2018Journal of Maternal-Fetal & Neonatal Medicine9 citations Open access
Semantic Scholar
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.
C. Villar, J. Campistol, C. Fons, J. Armstrong +3 more
2012JIMD Reports9 citations Open access
Semantic Scholar
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
P. Lazo, J. García, Paulino Gómez-Puertas, Í. Marcos-Alcalde +4 more
2020International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain
A. Martínez, J. Armstrong, E. Gerotina, C. Fons +2 more
2012Journal of Pediatric Epilepsy7 citations
Semantic Scholar
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
J. García-Hernández, L. Corchete, Í. Marcos-Alcalde, Paulino Gómez-Puertas +2 more
2020Human Genomics6 citations Open access
Semantic Scholar
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency
C. Ortez, C. Villar, C. Fons, S. Duarte +8 more
2011Journal of Alzheimer's Disease6 citations Open access
Semantic Scholar
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.
D. Casas-Alba, A. Aguilar, I. Alonso, María Teresa García +2 more
2023Pediatric Neurology5 citations
Semantic Scholar
Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
E. Pereira, M. R. Polo, Jordi Muchart López, T. A. Quijano +2 more
2014Pediatric Reports5 citations Open access
Semantic Scholar
Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors.
Evelyn Karina Chávez López, J. Aparicio, C. Valera, J. Campistol-Plana +3 more
2022European journal of paediatric neurology4 citations
Semantic Scholar
Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome
D. Casas-Alba, G. Nolasco, María Díez-Juan, Marcela Mezzatesta +2 more
2021American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
A. Ulate-Campos, C. Fons, J. Campistol, L. Martorell +6 more
2014Medicina clínica (Ed. impresa)3 citations
Semantic Scholar
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Maria K. Sentmanat, Maria Papadopoulou, L. Prange, C. Fons +15 more
2023European journal of paediatric neurology2 citations
Semantic Scholar
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.
Díadac Casas-Alba, Clara Oliva, María del Carmen Salgado, A. Codina +8 more
2021Pediatric Neurology2 citations
Semantic Scholar
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature
D. Natera-de Benito, C. Fons, A. Ulate-Campos, L. Martorell +1 more
2015Clinical Dysmorphology2 citations
Semantic Scholar
Reply to He et al
J. García-Villoria, L. Gort, I. Madrigal, C. Fons +7 more
2011European Journal of Human Genetics2 citations Open access
Semantic Scholar
Epilepsy spectrum in cerebral creatine transporter deficiency: Letters/commentary
C. Fons, Á. Sempere, F. Sanmartí, Á. Arias +8 more
20092 citations
Semantic Scholar
Pharmacological Combination of Sodium Channel Blockers (Oxcarbazepine and Lacosamide) to Control Seizures in Two Patients with Neonatal-Onset Epilepsy due to De Novo SCNA2 Heterozygous Mutation
A. Borras, V. Delgadillo, N. Júlia, V. González +3 more
2022Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)0 citations
Semantic Scholar
Improved KCNQ2 gene missense variant interpretation with artificial intelligence
Alba Sáez-Matía, Arantza Muguruza-Montero, Sara M-Alicante, Eider Núñez +7 more
2022bioRxiv0 citations Open access
Semantic Scholar
EP09.07: Kallman syndrome: phenotypic variability in the same family
I. Calvo, M. Pérez-Cruz, N. Masoller, M. Illa +6 more
2022Ultrasound in Obstetrics & Gynecology0 citations Open access
Semantic Scholar
Abstract 15039: International Multicenter Registry Study of Patients With Variants in ATP1A3 -Encoded Sodium-Potassium ATPase 3 Finds an Association With Short QT and Life-Threatening Ventricular Arrhythmias
M. Moya-Mendez, Minu-Tshyeto Bidzimou, Jordan E. Ezekian, Robin M. Perelli +29 more
2022Circulation0 citations
Semantic Scholar
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
J. Uchitel, Keri Wallace, Linh M. Tran, Tavis Abrahamsen +18 more
20210 citations
Semantic Scholar

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