Laia Fontanet-Nou
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 16 publications
Evaluating executive functions in children and adolescents with epilepsy using the EpiTRACK tool: A 5-year longitudinal follow-up study.
Journal: Epilepsy & behavior : E&B
Published: November 22, 2025
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
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.
Journal: Orphanet journal of rare diseases
Published: September 19, 2025
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 03, 2025
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.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 18, 2025
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+ and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
Journal: Pediatric neurology
Published: December 23, 2024
Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review.
Journal: Frontiers in medicine
Published: October 07, 2024
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Journal: Movement disorders clinical practice
Published: December 19, 2023
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.
Journal: PloS one
Published: December 11, 2023
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 21, 2023
Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.
Journal: European journal of neurology
Published: June 12, 2023
Last Updated: 09/26/2026