Elena Parrini

Florence, Italy

Last Updated: 09/26/2026

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Found 75 publications

Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group Cohort.

Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group Cohort.

Journal: Neurology
Published: March 31, 2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

Journal: American journal of medical genetics. Part A
Published: February 25, 2026

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Journal: Neurology
Published: July 22, 2025

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Journal: Epilepsia
Published: June 24, 2025

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Journal: Brain communications
Published: May 02, 2025

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Journal: Journal of medical genetics
Published: August 19, 2024

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Journal: Endocrine connections
Published: June 14, 2024

Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

Journal: Neurocase
Published: May 21, 2024

Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder.

Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder.

Journal: Journal of medical genetics
Published: May 03, 2024

Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83  Gene.

Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83  Gene.

Journal: American journal of medical genetics. Part A
Published: April 26, 2024

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 10, 2024

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Journal: Epilepsia
Published: November 10, 2023
Showing 1-12 of 75

Last Updated: 09/26/2026