Davide Mei

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Dirigente Professioni Sanitarie Tecnico Diagnostiche

Italy

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Davide Mei is a Dirigente Professioni Sanitarie Tecnico Diagnostiche at Meyer Children's Hospital in Italy. His research focuses on pediatric genetic disorders, including cardiac channelopathies, epilepsy, and neurodevelopmental disorders. Recent publications include studies on the genetic profiles of pediatric-onset conditions and the prevalence of single-gene aetiologies in genetic developmental and epileptic encephalopathies.

Recent Grants

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Optimizing the diagnostic workflow in patients with epileptogenic developmental disorders: accurate identification of somatic mosaicisms by next- generation sequencing

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Articles (16)

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2025

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2020

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2020

Collaborators (12)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Gaetano Cantalupo

Associate Professor

University of Verona

ITALY

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lucio giordano

Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

ITALY

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Anna Rosati

University of Florence

ITALY

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Christina Gurnett

Professor

Washington University in St. Louis

UNITED STATES

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simon topp

King’s College London

UNITED KINGDOM

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Kaja Kristine Selmer

NORWAY

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FLAVIO GIORDANO

University of Florence

ITALY

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Anna Belinda Smith

King’s College London

UNITED KINGDOM

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Renzo Guerrini

University of Florence

ITALY

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Julia Schulze-Hentrich

University professor

Saarland University

GERMANY

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Maurizio Taglialatela

ITALY

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Davide Mei

Research Interests

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Recent Grants

Articles (16)

Genetic Profile of Pediatric-Onset Cardiac Channelopathies

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy

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 <i>CEP83</i> Gene

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

<i>RICTOR</i> variants are associated with neurodevelopmental disorders

An interconnected data infrastructure to support large-scale rare disease research.

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

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series

Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants

CDKL5 deficiency disorder in males: Five new variants and review of the literature

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

Collaborators (12)

Claire-Sophie Davoine

Gaetano Cantalupo

lucio giordano

Anna Rosati

Christina Gurnett

simon topp

Kaja Kristine Selmer

FLAVIO GIORDANO

Anna Belinda Smith

Renzo Guerrini

Julia Schulze-Hentrich

Maurizio Taglialatela

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