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SCN1A‐related phenotypes: Epilepsy and beyond

Epilepsia (Copenhagen), 2019-12, Vol.60 (S3), p.S17-S24

2019

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A definition and classification of status epilepticus – Report of the ILAE Task Force on Classification of Status Epilepticus

Epilepsia (Copenhagen), 2015-10, Vol.56 (10), p.1515-1523

2015

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The new definition and classification of seizures and epilepsy

Epilepsy research, 2018-01, Vol.139, p.73-79

2018

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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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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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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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Genetic architecture of childhood speech disorder: a review

Molecular psychiatry, 2024-05, Vol.29 (5), p.1281-1292

2024

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International consensus on diagnosis and management of Dravet syndrome

Epilepsia (Copenhagen), 2022-07, Vol.63 (7), p.1761-1777

2022

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New concepts in classification of the epilepsies: Entering the 21st century

Epilepsia (Copenhagen), 2011-06, Vol.52 (6), p.1058-1062

2011

Volltextzugriff (PDF)

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Epilepsia (Copenhagen), 2010-04, Vol.51 (4), p.676-685

2010

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The genetics of Dravet syndrome

Epilepsia (Copenhagen), 2011-04, Vol.52 (s2), p.24-29

2011

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A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Molecular psychiatry, 2019-07, Vol.24 (7), p.1065-1078

2019

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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Nature genetics, 2012-11, Vol.44 (11), p.1188-1190

2012

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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Annals of neurology, 2016-01, Vol.79 (1), p.120-131

2016

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Autoantibodies and epilepsy

Epilepsia (Copenhagen), 2011-05, Vol.52 (s3), p.18-22

2011

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Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex

Nature communications, 2022-07, Vol.13 (1), p.4209-4209, Article 4209

2022

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Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

Epilepsy research, 2019-09, Vol.155, p.106161-106161, Article 106161

2019

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Self‐reported impact of developmental stuttering across the lifespan

Developmental medicine and child neurology, 2022-10, Vol.64 (10), p.1297-1306

2022

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The management of epilepsy in children and adults

Medical journal of Australia, 2018-03, Vol.208 (5), p.226-233

2018

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Brain (London, England : 1878), 2021-05, Vol.144 (5), p.1435-1450

2021

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SCN8A encephalopathy: Research progress and prospects

Epilepsia (Copenhagen), 2016-07, Vol.57 (7), p.1027-1035

2016

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Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial

Epilepsia (Copenhagen), 2023-10, Vol.64 (10), p.2653-2666

2023

Volltextzugriff (PDF)

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

European journal of paediatric neurology, 2020-01, Vol.24, p.11-14

2020

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SCN1A‐related phenotypes: Epilepsy and beyond

A definition and classification of status epilepticus – Report of the ILAE Task Force on Classification of Status Epilepticus

The new definition and classification of seizures and epilepsy

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

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

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

Genetic architecture of childhood speech disorder: a review

International consensus on diagnosis and management of Dravet syndrome

New concepts in classification of the epilepsies: Entering the 21st century

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

The genetics of Dravet syndrome

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Autoantibodies and epilepsy

Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

Self‐reported impact of developmental stuttering across the lifespan

The management of epilepsy in children and adults

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

SCN8A encephalopathy: Research progress and prospects

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

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