Lista de obras - Elena Fontana - Dominio Público Uruguay

A case of partial biotinidase deficiency associated with autism.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 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)

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Electroclinical findings in four patients with karyotype 47,XYY.

artículo científico publicado en 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

artículo científico publicado en 1996

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Phace syndrome: is timolol gel a chance for treatment?

artículo científico publicado en 2017

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

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

artículo científico publicado en 1991

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Lista de obras de Elena Fontana

A case of partial biotinidase deficiency associated with autism.

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

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

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

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

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

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

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

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

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

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

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)

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

Electroclinical findings in four patients with karyotype 47,XYY.

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

Felbamate in therapy-resistant epilepsy: an Italian experience

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

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

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

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

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

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

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

Phace syndrome: is timolol gel a chance for treatment?

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

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

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

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

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