Lista de obras - Elena Freri - Dominio Público Uruguay

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

artículo científico publicado en 2011

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

article

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Cognitive and neuropsychological evolution in children with anti-NMDAR encephalitis.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

artículo científico publicado en 2018

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

artículo científico publicado en 2018

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

artículo científico publicado en 2009

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.

artículo científico publicado en 2015

Epilepsy and NREM-parasomnia: a complex and reciprocal relationship.

artículo científico publicado en 2012

Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

artículo científico publicado en 2014

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

artículo científico publicado en 2015

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

artículo científico publicado en 2015

FDG-PET assessment and metabolic patterns in Lafora disease

artículo científico publicado en 2019

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Focal seizure, focal dyskinesia, or both? A complex motor phenomenon reveals anti-NMDAR encephalitis

artículo científico publicado en 2015

Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year

artículo científico publicado en 2014

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

artículo científico publicado en 2018

Hemispherotomy and functional hemispherectomy: indications and outcome.

artículo científico publicado en 2009

Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients.

artículo científico publicado en 2014

ICTAL EEG Fast Activity in West Syndrome: From Onset to Outcome

artículo científico publicado en 2007

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

artículo científico publicado en 2012

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

artículo científico publicado en 2017

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

artículo científico publicado en 2014

Neuroimaging Changes in Menkes Disease, Part 1.

artículo científico publicado en 2017

Neuroimaging Changes in Menkes Disease, Part 2.

artículo científico publicado en 2017

Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges

artículo científico publicado en 2006

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review

artículo científico

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

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

artículo científico publicado en 2016

Treatment with metformin in twelve patients with Lafora disease

artículo científico publicado en 2019

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

artículo científico publicado en 2019

Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons.

artículo científico publicado en 2015

Vagus nerve stimulation for drug-resistant Epilepsia Partialis Continua: report of four cases.

artículo científico publicado en 2013

Vagus nerve stimulation in refractory epilepsy: new indications and outcome assessment

artículo científico publicado en 2013

Lista de obras de Elena Freri

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Cognitive and neuropsychological evolution in children with anti-NMDAR encephalitis.

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

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.

Epilepsy and NREM-parasomnia: a complex and reciprocal relationship.

Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

FDG-PET assessment and metabolic patterns in Lafora disease

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Focal seizure, focal dyskinesia, or both? A complex motor phenomenon reveals anti-NMDAR encephalitis

Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Hemispherotomy and functional hemispherectomy: indications and outcome.

Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients.

ICTAL EEG Fast Activity in West Syndrome: From Onset to Outcome

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Neuroimaging Changes in Menkes Disease, Part 1.

Neuroimaging Changes in Menkes Disease, Part 2.

Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

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

Treatment with metformin in twelve patients with Lafora disease

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons.

Vagus nerve stimulation for drug-resistant Epilepsia Partialis Continua: report of four cases.

Vagus nerve stimulation in refractory epilepsy: new indications and outcome assessment