Search filters

List of works by Daniela Pucatti

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

scientific article published on 15 February 2017

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

scientific article published on 19 November 2016

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

scientific article published on 9 March 2015

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

scientific article published on 11 April 2011

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

scientific article

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

scientific article published on 18 November 2010

Paulina is supported by:

About Paulina

Help