Elena Freri

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

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Articles (13)

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2024

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2024

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2023

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2023

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2023

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2021

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2020

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (6)

Giuseppe Didato

University Hospital Erlangen

GERMANY

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Yi-Chen Lai

Baylor College of Medicine

UNITED STATES

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Vladimir Ferrafiat

FRANCE

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Nikita Shukla

Asssistant Professor

Baylor College of Medicine

UNITED STATES

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Jacopo C. DiFrancesco

University of Milano-Bicocca

ITALY

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Maurizio Taglialatela

ITALY

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Elena Freri

Research Interests

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Articles (13)

Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorder

Correction to: The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: “Precision medicine” approach with fluoxetine

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Psychiatric autoimmune conditions in children and adolescents: Is catatonia a severity marker?

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort

Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants.

Age and sex prevalence estimate of Joubert syndrome in Italy.

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Early Parkinsonism in a Senegalese girl with Lafora disease

Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation

FDG-PET assessment and metabolic patterns in Lafora disease

Collaborators (6)

Giuseppe Didato

Yi-Chen Lai

Vladimir Ferrafiat

Nikita Shukla

Jacopo C. DiFrancesco

Maurizio Taglialatela

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