Carla Marini
Ancona, Italy
Last Updated: 09/26/2026
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Found 128 publications
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: March 27, 2026
Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy.
Journal: Epilepsy & behavior : E&B
Published: February 10, 2026
Seizure worsening and sodium channel blockers in HCN1-related epilepsies: A case series.
Journal: Developmental medicine and child neurology
Published: February 10, 2026
Transition from adolescence to adulthood: Dedicated health services for young people with epilepsy in Italy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: November 28, 2025
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.
Journal: Epilepsia
Published: October 11, 2025
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Journal: American journal of human genetics
Published: August 13, 2025
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Journal: Neurology
Published: June 26, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.
Journal: Epilepsia
Published: June 24, 2025
Last Updated: 09/26/2026