Lista de obras -

A White Paper on the medical and social needs of people with epilepsy and intellectual disability: the Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy

artículo científico publicado en 2014

A new classification is born.

artículo científico publicado en 2017

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus

artículo científico publicado en 2009

Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment

artículo científico publicado en 2017

Chipping away at the channels: Can we fashion a syndrome?

artículo científico publicado en 2015

Chromosome disorders associated with epilepsy

artículo científico publicado en 2013

Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology.

artículo científico publicado en 2016

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Comorbidities and predictors of health-related quality of life in Dravet syndrome

artículo científico publicado en 2011

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

artículo científico publicado en 2018

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

artículo científico publicado en 2006

Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases

artículo científico publicado en 2006

Dravet syndrome and its mimics: Beyond SCN1A.

artículo científico publicado en 2017

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

artículo científico publicado en 2011

Dravet syndrome--from epileptic encephalopathy to channelopathy

artículo científico

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

artículo científico publicado en 2005

Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy

artículo científico publicado en 2018

Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome

artículo científico publicado en 2015

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

artículo científico publicado en 2015

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

artículo científico publicado en 2008

Genetics update: Monogenetics, polygene disorders and the quest for modifying genes

artículo científico publicado en 2017

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2015

Genotype phenotype associations across the voltage-gated sodium channel family

artículo científico publicado en 2014

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

artículo científico publicado en 2010

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

artículo científico publicado en 2010

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

artículo científico publicado en 2015

ICD coding for epilepsy: past, present, and future--a report by the International League Against Epilepsy Task Force on ICD codes in epilepsy

artículo científico publicado en 2015

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

artículo científico publicado en 2017

In response: Evaluating the care of a multidisciplinary clinic by using the White Paper "Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy".

artículo científico publicado en 2015

Instruction manual for the ILAE 2017 operational classification of seizure types

artículo científico publicado en 2017

Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome

artículo científico publicado en 2011

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

artículo científico publicado en 2012

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

artículo científico publicado en 2006

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.

artículo científico publicado en 2017

Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life

artículo científico

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

artículo científico publicado en 2012

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy

artículo científico publicado en 2003

Psychosocial and intellectual functioning in childhood narcolepsy.

artículo científico publicado en 2008

Response to the numbering of seizure types.

artículo científico publicado en 2017

Sleep, oxygen saturation, and seizures in Dravet syndrome

artículo científico publicado en 2017

Symptoms of narcolepsy in children misinterpreted as epilepsy.

artículo científico publicado en 2005

The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

artículo científico publicado en 2018

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy

artículo científico publicado en 2012

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

artículo científico publicado en 2017

The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies

artículo científico publicado en 2013

The movement disorders of Coffin-Lowry syndrome

artículo científico publicado en 2005

The spectrum of SCN1A-related infantile epileptic encephalopathies

artículo científico publicado en 2007

Treatment of behavioral problems in intellectually disabled adult patients with epilepsy

artículo científico

Update on diagnosis and management of childhood epilepsies

artículo científico publicado en 2015

Lista de obras de

A White Paper on the medical and social needs of people with epilepsy and intellectual disability: the Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy

A new classification is born.

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus

Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment

Chipping away at the channels: Can we fashion a syndrome?

Chromosome disorders associated with epilepsy

Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Comorbidities and predictors of health-related quality of life in Dravet syndrome

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases

Dravet syndrome and its mimics: Beyond SCN1A.

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Dravet syndrome--from epileptic encephalopathy to channelopathy

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy

Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Genetics update: Monogenetics, polygene disorders and the quest for modifying genes

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genotype phenotype associations across the voltage-gated sodium channel family

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

ICD coding for epilepsy: past, present, and future--a report by the International League Against Epilepsy Task Force on ICD codes in epilepsy

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

In response: Evaluating the care of a multidisciplinary clinic by using the White Paper "Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy".

Instruction manual for the ILAE 2017 operational classification of seizure types

Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.

Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy

Psychosocial and intellectual functioning in childhood narcolepsy.

Response to the numbering of seizure types.

Sleep, oxygen saturation, and seizures in Dravet syndrome

Symptoms of narcolepsy in children misinterpreted as epilepsy.

The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies

The movement disorders of Coffin-Lowry syndrome

The spectrum of SCN1A-related infantile epileptic encephalopathies

Treatment of behavioral problems in intellectually disabled adult patients with epilepsy

Update on diagnosis and management of childhood epilepsies