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

J Klepper, C Akman, M Armeno, S Auvin… - Epilepsia …, 2020 - Wiley Online Library
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired
glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is …

[HTML][HTML] Global synergistic actions to improve brain health for human development

MO Owolabi, M Leonardi, C Bassetti… - Nature Reviews …, 2023 - nature.com
The global burden of neurological disorders is substantial and increasing, especially in low-
resource settings. The current increased global interest in brain health and its impact on …

Dravet syndrome and its mimics: Beyond SCN1A

D Steel, JD Symonds, SM Zuberi, A Brunklaus - Epilepsia, 2017 - Wiley Online Library
Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …

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

IE Scheffer, S Berkovic, G Capovilla, MB Connolly… - …, 2017 - Wiley Online Library
Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies
has been updated to reflect our gain in understanding of the epilepsies and their underlying …

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

RS Fisher, JH Cross, JA French, N Higurashi… - …, 2017 - Wiley Online Library
Summary The International League Against Epilepsy (ILAE) presents a revised operational
classification of seizure types. The purpose of such a revision is to recognize that some …

Instruction manual for the ILAE 2017 operational classification of seizure types

RS Fisher, JH Cross, C D'souza, JA French… - …, 2017 - Wiley Online Library
This companion paper to the introduction of the International League Against Epilepsy
(ILAE) 2017 classification of seizure types provides guidance on how to employ the …

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

N Specchio, EC Wirrell, IE Scheffer, R Nabbout… - …, 2022 - Wiley Online Library
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …

[HTML][HTML] Effect of cannabidiol on drop seizures in the Lennox–Gastaut syndrome

O Devinsky, AD Patel, JH Cross… - … England Journal of …, 2018 - Mass Medical Soc
Background Cannabidiol has been used for treatment-resistant seizures in patients with
severe early-onset epilepsy. We investigated the efficacy and safety of cannabidiol added to …

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

SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease …