List of works - Sameer M Zuberi

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

scientific article

A new classification is born.

scientific article

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

scientific article published in April 2009

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

scientific article published on 15 February 2017

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

scientific article published on 7 January 2015

Chromosome disorders associated with epilepsy

scientific article published on January 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.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article published on 10 June 2011

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

scientific article

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

scientific article

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

scientific article published on 10 August 2006

Dravet syndrome and its mimics: Beyond SCN1A.

scientific article published on 7 September 2017

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

scientific article

Dravet syndrome--from epileptic encephalopathy to channelopathy

scientific article published on 16 May 2014

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

scientific article published in March 2005

Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy

scientific article published on 19 January 2018

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

scientific article published on 21 August 2015

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

scientific article published on 15 May 2015

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

scientific article published in February 2008

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

scientific article published on 13 October 2017

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

scientific article

Genotype phenotype associations across the voltage-gated sodium channel family

scientific article

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

scientific article

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

scientific article published on 13 April 2010

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

scientific article

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

scientific article published on 12 February 2015

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

scientific article

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".

scientific article published in September 2015

Instruction manual for the ILAE 2017 operational classification of seizure types

scientific article published on 8 March 2017

Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome

scientific article published on 03 April 2011

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

scientific article

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

scientific article

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

scientific article published on 8 March 2017

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

scientific article published on 25 July 2011

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

scientific article published on January 2012

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

scientific article

Psychosocial and intellectual functioning in childhood narcolepsy.

scientific article published in July 2008

Response to the numbering of seizure types.

scientific article published in July 2017

Sleep, oxygen saturation, and seizures in Dravet syndrome

scientific article published on 14 December 2017

Symptoms of narcolepsy in children misinterpreted as epilepsy.

scientific article published in March 2005

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

scientific article published on 5 April 2018

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

scientific article

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

scientific article

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

scientific article published on 3 June 2013

The movement disorders of Coffin-Lowry syndrome

scientific article

The spectrum of SCN1A-related infantile epileptic encephalopathies

scientific article published in March 2007

Treatment of behavioral problems in intellectually disabled adult patients with epilepsy

scientific article published on March 2013

Update on diagnosis and management of childhood epilepsies

scientific article

List of works by Sameer M Zuberi

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