Carmen C. Fons-Estupina

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 47 publications

Maturational trajectories of neurophysiological indices of inhibitory control in typically developing children.

Maturational trajectories of neurophysiological indices of inhibitory control in typically developing children.

Journal: Developmental cognitive neuroscience

Published: May 19, 2026

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 20, 2025

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Journal: Brain : a journal of neurology

Published: October 17, 2025

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research.

The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research.

Journal: Epilepsy & behavior : E&B

Published: August 05, 2025

Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long-Term Outcomes.

Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long-Term Outcomes.

Journal: Annals of the Child Neurology Society

Published: June 14, 2025

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

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

Journal: Journal of medical genetics

Published: April 11, 2025

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Journal: JAMA pediatrics

Published: March 03, 2025

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Journal: Neurobiology of disease

Published: February 19, 2025

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 18, 2025

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

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

Journal: Epilepsia open

Published: October 07, 2024

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Showing 1-12 of 47

Last Updated: 09/26/2026