Carmen Fons

6PUBLICATIONS
43CO-AUTHORS
Respiratory diseasesMajor global burdens of diseaseNeurogeneticsCybercrimeCardiology (incl. cardiovascular diseases)
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Publications (6)

|Sep 30, 2026
Alternating Hemiplegia of Childhood: Development of a Disease-Specific Clinical Rating Scale.

|Apr 03, 2026
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

Laia Nou-Fontanet, Gaetano Cantalupo, Frederik Braun

|Sep 10, 2025
Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism.

Carmen Fons, Yu-Han Ge, Laura Kristine Rasmussen

|Dec 16, 2024
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.

Maria Borrell-Pichot, Carmen Fons, Susana Boronat

|Sep 10, 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.

Meredith K Srour, Minu-Tshyeto K Bidzimou, Padmapriya Muralidharan

|Nov 20, 2023
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.

Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro

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Frequent Collaborators

2 joint publications

Elisa De Grandis

2 joint publications

Livia Pisciotta

2 joint publications

Matthildi Athina Papathanasiou Terzi

2 joint publications

Mohamad A Mikati