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List of works by Elena Fontana

A case of partial biotinidase deficiency associated with autism.

scientific article published in September 2003

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

scientific article published on 5 May 2009

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

scientific article published on 26 January 2011

Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases

scientific article published in January 2006

Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations

scientific article published on 01 October 2008

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

scientific article published in January 2011

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Contact Sensitization in Children: A Retrospective Study of 2,614 Children from a Single Center.

scientific article

Cost-of-illness of epilepsy in Italy. Data from a multicentre observational study (Episcreen).

scientific article

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

scientific article published in September 2011

Efficacy and tolerability of vigabatrin in children with refractory partial seizures: a single-blind dose-increasing study

scientific article published on 01 July 1995

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)

scientific article published on 15 June 2016

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

scientific article published on 23 January 2018

Electroclinical findings in four patients with karyotype 47,XYY.

scientific article published on 16 September 2010

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

article

Felbamate in therapy-resistant epilepsy: an Italian experience

scientific article published in November 1996

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

scientific article published on 29 January 2008

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

scientific article published in March 2003

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

scientific article published on 29 September 2014

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

scientific article published on 6 May 2011

Phace syndrome: is timolol gel a chance for treatment?

scientific article published on 20 February 2017

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

scientific article (publication date: 24 June 2003)

Status epilepticus in benign rolandic epilepsy manifesting as anterior operculum syndrome.

scientific article

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

scientific article published on 20 October 2016

Temporal lobe epilepsy in children: electroclinical study of 77 cases.

scientific article

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

scientific article

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