Lista de obras - Elena Gardella - Dominio Público Uruguay

A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study

scientific article published on 01 June 2001

A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I.

artículo científico publicado en 1997

A wavelet based analysis of energy redistribution in scalp EEG during epileptic seizures

Added clinical value of the inferior temporal EEG electrode chain

artículo científico publicado en 2017

Age-related gender differences in reporting ictal fear: analysis of case histories and review of the literature

artículo científico publicado en 2007

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.

artículo científico publicado en 2017

Assessing the landscape of STXBP1-related disorders in 534 individuals

artículo científico publicado en 2022

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

artículo científico publicado en 2006

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

scientific article published on 17 October 2019

Central pattern generators for a common semiology in fronto-limbic seizures and in parasomnias. A neuroethologic approach.

artículo científico publicado en 2005

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

artículo científico publicado en 2017

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

artículo científico publicado en 2019

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Diagnostic accuracy of the Salzburg EEG criteria for non-convulsive status epilepticus: a retrospective study

artículo científico publicado en 2016

Diagnostic yield of five minutes compared to three minutes hyperventilation during electroencephalography.

artículo científico publicado en 2015

Diagnostic yield of standard-wake and sleep EEG recordings

artículo científico publicado en 2018

Do patients need to stay in bed all day in the Epilepsy Monitoring Unit? Safety data from a non-restrictive setting.

artículo científico publicado en 2017

Early mortality in SCN8A-related epilepsies

artículo científico publicado en 2018

Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood.

artículo científico publicado en 2015

Endoscopic laryngeal patterns in vagus nerve stimulation therapy for drug-resistant epilepsy

artículo científico publicado en 2013

Epilepsy in adult patients with Down syndrome: a clinical-video EEG study

artículo científico publicado en 2011

Epileptic intermittent snoring

artículo científico publicado en 2001

Facial expression of emotion in human frontal and temporal lobe epileptic seizures

artículo científico publicado en 2003

Focal epilepsies in adult patients attending two epilepsy centers: classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs

artículo científico publicado en 2012

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

artículo científico publicado en 2022

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

artículo científico publicado en 2017

How long shall we record electroencephalography?

artículo científico publicado en 2013

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

Ictal grasping: prevalence and characteristics in seizures with different semiology

artículo científico publicado en 2006

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences

artículo científico publicado en 2009

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

artículo científico publicado en 2021

Lesionectomy in epileptogenic gangliogliomas: seizure outcome and surgical results

artículo científico publicado en 2006

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Mutations in KCNT1 cause a spectrum of focal epilepsies.

artículo científico publicado en 2015

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

artículo científico publicado en 2017

Negative myoclonus.

artículo científico publicado en 1995

Neuroethological approach to frontolimbic epileptic seizures and parasomnias: The same central pattern generators for the same behaviours.

artículo científico publicado en 2009

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

Patients with epilepsy and patients with psychogenic non-epileptic seizures: video-EEG, clinical and neuropsychological evaluation

artículo científico publicado en 2011

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

artículo científico publicado en 2016

Photic reflex myoclonus: a neurophysiological study in progressive myoclonus epilepsies.

artículo científico publicado en 1999

Possible post-traumatic paroxysmal kinesigenic dyskinesia

artículo científico publicado en 2008

Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep.

artículo científico publicado en 2017

Reply

Salzburg Consensus Criteria for Non-Convulsive Status Epilepticus--approach to clinical application.

artículo científico publicado en 2015

Salzburg criteria: can we extend validation to critical care? - Authors' reply

artículo científico publicado en 2017

Seizure-related automatic locomotion triggered by intracerebral electrical stimulation.

artículo científico publicado en 2008

Self-induction of visually-induced seizures

artículo científico publicado el 1 de enero de 1998

Standardized computer-based organized reporting of EEG: SCORE - Second version

artículo científico

Telephone-induced seizures: a new type of reflex epilepsy

artículo científico publicado en 2004

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

artículo científico publicado en 2018

The phenotype of SCN8A developmental and epileptic encephalopathy

artículo científico publicado en 2018

The phenotypic spectrum of SCN8A encephalopathy

artículo científico publicado en 2015

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Transcranial magnetic stimulation in partial epilepsy: drug-induced changes of motor excitability

scientific article published on 01 July 1996

Lista de obras de Elena Gardella

A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study

A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I.

A wavelet based analysis of energy redistribution in scalp EEG during epileptic seizures

Added clinical value of the inferior temporal EEG electrode chain

Age-related gender differences in reporting ictal fear: analysis of case histories and review of the literature

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

Central pattern generators for a common semiology in fronto-limbic seizures and in parasomnias. A neuroethologic approach.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Defining the phenotypic spectrum of SLC6A1 mutations

Diagnostic accuracy of the Salzburg EEG criteria for non-convulsive status epilepticus: a retrospective study

Diagnostic yield of five minutes compared to three minutes hyperventilation during electroencephalography.

Diagnostic yield of standard-wake and sleep EEG recordings

Do patients need to stay in bed all day in the Epilepsy Monitoring Unit? Safety data from a non-restrictive setting.

Early mortality in SCN8A-related epilepsies

Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood.

Endoscopic laryngeal patterns in vagus nerve stimulation therapy for drug-resistant epilepsy

Epilepsy in adult patients with Down syndrome: a clinical-video EEG study

Epileptic intermittent snoring

Facial expression of emotion in human frontal and temporal lobe epileptic seizures

Focal epilepsies in adult patients attending two epilepsy centers: classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

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

How long shall we record electroencephalography?

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ictal grasping: prevalence and characteristics in seizures with different semiology

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Lesionectomy in epileptogenic gangliogliomas: seizure outcome and surgical results

Lessons learned from 40 novel PIGA patients and a review of the literature

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

Negative myoclonus.

Neuroethological approach to frontolimbic epileptic seizures and parasomnias: The same central pattern generators for the same behaviours.

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

Patients with epilepsy and patients with psychogenic non-epileptic seizures: video-EEG, clinical and neuropsychological evaluation

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Photic reflex myoclonus: a neurophysiological study in progressive myoclonus epilepsies.

Possible post-traumatic paroxysmal kinesigenic dyskinesia

Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep.

Reply

Salzburg Consensus Criteria for Non-Convulsive Status Epilepticus--approach to clinical application.

Salzburg criteria: can we extend validation to critical care? - Authors' reply

Seizure-related automatic locomotion triggered by intracerebral electrical stimulation.

Self-induction of visually-induced seizures

Standardized computer-based organized reporting of EEG: SCORE - Second version

Telephone-induced seizures: a new type of reflex epilepsy

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

The phenotype of SCN8A developmental and epileptic encephalopathy

The phenotypic spectrum of SCN8A encephalopathy

The spectrum of intermediate SCN8A-related epilepsy

Transcranial magnetic stimulation in partial epilepsy: drug-induced changes of motor excitability