Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza…�- Physiological�…, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG�…

Distribution and function of voltage-gated sodium channels in the nervous system

J Wang, SW Ou, YJ Wang�- Channels, 2017 - Taylor & Francis
Voltage-gated sodium channels (VGSCs) are the basic ion channels for neuronal
excitability, which are crucial for the resting potential and the generation and propagation of�…

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

Z Han, C Chen, A Christiansen, S Ji, Q Lin…�- Science translational�…, 2020 - science.org
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy
caused largely by de novo variants in the SCN1A gene, resulting in haploinsufficiency of the�…

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] dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

G Colasante, G Lignani, S Brusco, C Di Berardino…�- Molecular Therapy, 2020 - cell.com
Dravet syndrome (DS) is a severe epileptic encephalopathy caused mainly by heterozygous
loss-of-function mutations of the SCN1A gene, indicating haploinsufficiency as the�…

A prospective open‐label trial of a CBD/THC cannabis oil in dravet syndrome

B McCoy, L Wang, M Zak, S Al‐Mehmadi…�- Annals of Clinical�…, 2018 - Wiley Online Library
Abstract Introduction Both Δ9 Tetrahydrocannabidiol (THC) and cannabidiol (CBD)
components of cannabis, have been shown to have anticonvulsant effects. Cannabis oils�…

[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�…

Sodium channel β subunits: emerging targets in channelopathies

HA O'Malley, LL Isom�- Annual review of physiology, 2015 - annualreviews.org
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation
of action potentials in excitable cells. VGSCs in mammalian brain are heterotrimeric�…

[HTML][HTML] Mortality in Dravet syndrome: a review

S Shmuely, SM Sisodiya, WB Gunning, JW Sander…�- Epilepsy & Behavior, 2016 - Elsevier
Introduction Premature mortality is a major issue in Dravet syndrome (DS). To improve
understanding of DS premature mortality, we conducted a comprehensive literature search�…

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model

E Shao, CW Chang, Z Li, X Yu, K Ho, M Zhang…�- Science translational�…, 2022 - science.org
Intracellular accumulation of TAU aggregates is a hallmark of several neurodegenerative
diseases. However, global genetic reduction of TAU is beneficial also in models of other�…