Elena Parrini

University of Florence

BIOGRAPHY

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PUBLICATIONS

Neuronal migration disorders.

Neurobiology of disease May, 2010 | Pubmed ID: 19245832

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Brain : a journal of neurology Nov, 2013 | Pubmed ID: 24056535

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Journal of medical genetics Jun, 2015 | Pubmed ID: 25755106

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

The Lancet. Neurology Dec, 2015 | Pubmed ID: 26520804

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Neurology Mar, 2016 | Pubmed ID: 26944271

Genetic Basis of Brain Malformations.

Molecular syndromology Sep, 2016 | Pubmed ID: 27781032

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

Human mutation Feb, 2017 | Pubmed ID: 27864847

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Molecular diagnosis & therapy Aug, 2017 | Pubmed ID: 28197949

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Neurology Mar, 2017 | Pubmed ID: 28202706

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurology. Genetics Apr, 2017 | Pubmed ID: 28357411

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Brain : a journal of neurology Sep, 2017 | Pubmed ID: 29050398

INSTITUTIONS

University of Florence

JOVE ARTICLES

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Valerio Conti^*,1,

Aurelie Carabalona^*,2,3,15,

Emilie Pallesi-Pocachard^2,3,4,

Richard J. Leventer^5,6,7,

Fabienne Schaller^2,3,8,

Elena Parrini¹,

Agathe A. Deparis^2,3,

Françoise Watrin^2,3,

Emmanuelle Buhler^2,3,8,

Francesca Novara⁹,

Stefano Lise¹⁰,

Alistair T. Pagnamenta¹⁰,

Usha Kini¹¹,

Jenny C. Taylor¹⁰,

Orsetta Zuffardi^9,12,

Alfonso Represa^2,3,

David Antony Keays¹³,

Renzo Guerrini^1,14,

Antonio Falace^2,3,

Carlos Cardoso^2,3

¹, University of Florence,

², INSERM INMED,

³, Aix-Marseille University,

⁴, Plateforme Biologie Moléculaire et Cellulaire INMED,

⁵, Royal Children's Hospital,

⁶, Murdoch Children's Research Institute,

⁷, University of Melbourne,

⁸, Plateforme postgenomique INMED,

⁹, University of Pavia,

¹⁰, Wellcome Trust Centre for Human Genetics,

¹¹, Oxford Radcliffe NHS Trust,

¹², IRCCS Casimiro Mondino Foundation,

¹³, Research Institute of Molecular Pathology,

¹⁴, IRCCS Stella Maris,

¹⁵, Columbia University

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