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Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond

Epilepsia (Copenhagen), 2019-12, Vol.60 (S3), p.S59-S67

2019

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Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome

The New England journal of medicine, 2018-05, Vol.378 (20), p.1888-1897

2018

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Dravet syndrome and its mimics: Beyond SCN1A

Epilepsia (Copenhagen), 2017-11, Vol.58 (11), p.1807-1816

2017

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

Epilepsia (Copenhagen), 2017-04, Vol.58 (4), p.512-521

2017

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Precision in child neurology: Networks, systems, and technology

Developmental medicine and child neurology, 2022-06, Vol.64 (6), p.673-673

Zuberi, Sameer M.

2022

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

Epilepsia (Copenhagen), 2017-04, Vol.58 (4), p.522-530

2017

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Dravet syndrome—From epileptic encephalopathy to channelopathy

Epilepsia (Copenhagen), 2014-07, Vol.55 (7), p.979-984

2014

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The burden of illness in Lennox-Gastaut syndrome: a systematic literature review

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.42-42, Article 42

2023

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The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures

Epilepsia (Copenhagen), 2021-03, Vol.62 (3), p.615-628

2021

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Instruction manual for the ILAE 2017 operational classification of seizure types

Epilepsia (Copenhagen), 2017-04, Vol.58 (4), p.531-542

2017

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ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia (Copenhagen), 2022-06, Vol.63 (6), p.1475-1499

2022

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Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.2303-2318

2019

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ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia (Copenhagen), 2022-06, Vol.63 (6), p.1349-1397

2022

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International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Epilepsia (Copenhagen), 2022-06, Vol.63 (6), p.1398-1442

2022

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Response: Do all individuals with Dravet syndrome have intellectual disability?

Epilepsia (Copenhagen), 2024-06, Vol.65 (6), p.1803-1804

2024

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Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

Epilepsia (Copenhagen), 2018-07, Vol.59 (7), p.1372-1380

2018

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

Epilepsia (Copenhagen), 2011-08, Vol.52 (8), p.1476-1482

2011

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Gene variant effects across sodium channelopathies predict function and guide precision therapy

Brain (London, England : 1878), 2022-12, Vol.145 (12), p.4275-4286

2022

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Genotype phenotype associations across the voltage-gated sodium channel family

Journal of Medical Genetics, 2014-10, Vol.51 (10), p.650-658

2014

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Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Epilepsia (Copenhagen), 2022-06, Vol.63 (6), p.1333-1348

2022

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

Current opinion in neurology, 2017-04, Vol.30 (2), p.193-199

2017

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Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

Epilepsia (Copenhagen), 2023-04, Vol.64 (4), p.1012-1020

2023

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International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia (Copenhagen), 2022-06, Vol.63 (6), p.1443-1474

2022

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The training & organisation of paediatric neurology in Europe

European journal of paediatric neurology, 2020-09, Vol.28, p.1-1

Zuberi, Sameer M.

2020

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Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond

Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome

Dravet syndrome and its mimics: Beyond SCN1A

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

Precision in child neurology: Networks, systems, and technology

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

Dravet syndrome—From epileptic encephalopathy to channelopathy

The burden of illness in Lennox-Gastaut syndrome: a systematic literature review

The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures

Instruction manual for the ILAE 2017 operational classification of seizure types

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Response: Do all individuals with Dravet syndrome have intellectual disability?

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

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

Gene variant effects across sodium channelopathies predict function and guide precision therapy

Genotype phenotype associations across the voltage-gated sodium channel family

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

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

Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

The training & organisation of paediatric neurology in Europe

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