Carmen Fons

Head of department

Fundació Sant Joan de Déu

Spain

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About

Carmen Fons is the Head of Department at Hospital Sant Joan de Déu in Spain. Her research primarily focuses on developmental encephalopathies, refractory epilepsy management, and the genetic underpinnings of neuromotor delays. She has authored several recent articles addressing the functional consequences of genetic variants and their implications for pediatric patients.

Articles (10)

Year:

2025

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2025

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2023

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2023

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2022

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2021

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2021

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2021

Year:

2021

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2020

Collaborators (3)

Blaire Rikard

Duke University

UNITED STATES

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Julie Uchitel

Stanford University

UNITED STATES

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Francesc Palau

Visiting and Clinical Adjunct Professor of Pediatrics - Accreditated as Full Professor by the Catalonian Quality Agency

University of Barcelona

SPAIN

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Carmen Fons

Research Interests

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Articles (10)

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

Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report

Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.

Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

Cerebrospinal Fluid Ion Analysis in Neonatal Seizures

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome

Translational Diagnostics

Cardiac phenotype in ATP1A3-related syndromes

Collaborators (3)

Blaire Rikard

Julie Uchitel

Francesc Palau

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