Elena Cellini

Florence, Italy

Last Updated: 09/26/2026

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Found 15 publications

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

Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Journal: Movement disorders clinical practice

Published: November 16, 2021

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

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

Journal: Epilepsia

Published: August 24, 2021

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Journal: Genes

Published: May 24, 2021

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.

Journal: American journal of medical genetics. Part A

Published: May 17, 2020

Diagnostic implications of genetic copy number variation in epilepsy plus.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Journal: Epilepsia

Published: May 18, 2018

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Journal: European journal of human genetics : EJHG

Published: March 13, 2018

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Journal: American journal of medical genetics. Part A

Published: February 05, 2018

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Journal: Neurology. Genetics

Published: June 17, 2017

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

Journal: Clinical neurology and neurosurgery

Published: August 17, 2016

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Journal: American journal of medical genetics. Part A

Published: August 16, 2016

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Journal: Human mutation

Published: July 28, 2016

Showing 1-12 of 15

Last Updated: 09/26/2026