[HTML][HTML] Epilepsy-related voltage-gated sodium channelopathies: a review

LFS Menezes, EF Sabi� J�nior, DV Tibery…�- Frontiers in�…, 2020 - frontiersin.org
Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and�…

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�…

Cognitive and neurodevelopmental comorbidities in paediatric epilepsy

KC Nickels, MJ Zaccariello, LD Hamiwka…�- Nature Reviews�…, 2016 - nature.com
Cognitive and behavioural comorbidities are often seen in children with epilepsy, and are
more common and severe in refractory epilepsy. These comorbidities are associated with�…

Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel

EC Wirrell, L Laux, E Donner, N Jette, K Knupp…�- Pediatric�…, 2017 - Elsevier
Objectives To establish standards for early, cost-effective, and accurate diagnosis; optimal
therapies for seizures; and recommendations for evaluation and management of�…

[HTML][HTML] From genotype to phenotype in Dravet disease

S Gataullina, O Dulac�- Seizure, 2017 - Elsevier
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis�…

[HTML][HTML] Dravet syndrome: characteristics, comorbidities, and caregiver concerns

N Villas, MA Meskis, S Goodliffe�- Epilepsy & Behavior, 2017 - Elsevier
Abstract The Dravet Syndrome Foundation (DSF) conducted the largest in-depth survey of
parents and caregivers of patients with Dravet syndrome (DS) to date, in order to (1) identify�…

SCN1A/NaV1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

M Mantegazza, V Broccoli�- Epilepsia, 2019 - Wiley Online Library
Summary Pathogenic SCN 1A/NaV1. 1 mutations cause well‐defined epilepsies, including
genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy�…

Dravet syndrome: diagnosis and long-term course

MB Connolly�- Canadian Journal of Neurological Sciences, 2016 - cambridge.org
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it
comes with very high morbidity and mortality. The typical presentation is characterized by�…

Intellectual functioning and behavior in Dravet syndrome: A systematic review

JS Jansson, T Hallb��k, C Reilly�- Epilepsy & Behavior, 2020 - Elsevier
Background Dravet syndrome (DS) is a developmental and epileptic encephalopathy with
onset in the first year of life. At onset, the child displays normal development, but during the�…

[HTML][HTML] The clinical, economic, and humanistic burden of Dravet syndrome–A systematic literature review

J Sullivan, AM Deighton, MC Vila, SM Szabo, B Maru…�- Epilepsy & Behavior, 2022 - Elsevier
Dravet syndrome (DS) is a developmental and epileptic encephalopathy with evolving
disease course as individuals age. In recent years, the treatment landscape of DS has�…