Nicoletta Zanotta

Lecco, Italy

Last Updated: 09/26/2026

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Found 18 publications

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: November 29, 2023

Etiology and duration of the disease in the assessment of intellectual functioning of pediatric patients with epilepsy: An observational study.

Etiology and duration of the disease in the assessment of intellectual functioning of pediatric patients with epilepsy: An observational study.

Journal: Heliyon

Published: January 16, 2023

EEG Features in Autism Spectrum Disorder: A Retrospective Analysis in a Cohort of Preschool Children.

EEG Features in Autism Spectrum Disorder: A Retrospective Analysis in a Cohort of Preschool Children.

Journal: Brain sciences

Published: December 29, 2022

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Journal: Seizure

Published: May 20, 2022

Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval.

Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 17, 2021

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.

Journal: Brain sciences

Published: November 09, 2021

Lacosamide effectiveness and tolerability in patients with drug-resistant epilepsy and severe disability under polytherapy: Therapy optimization as emerging from an observational study.

Lacosamide effectiveness and tolerability in patients with drug-resistant epilepsy and severe disability under polytherapy: Therapy optimization as emerging from an observational study.

Journal: Epilepsy & behavior : E&B

Published: November 08, 2021

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

Journal: Epilepsy & behavior : E&B

Published: June 30, 2021

Novel epilepsy phenotype associated to a known SCN8A mutation.

Novel epilepsy phenotype associated to a known SCN8A mutation.

Journal: Seizure

Published: December 17, 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 07, 2017

Electrical status epilepticus during sleep in Mowat-Wilson syndrome.

Electrical status epilepticus during sleep in Mowat-Wilson syndrome.

Journal: Brain & development

Published: January 21, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026