Intellectual functioning and behavior in Dravet syndrome: A systematic review

JS Jansson, T Hallböök, 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 …

SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome

AC Bender, RP Morse, RC Scott, GL Holmes… - Epilepsy & Behavior, 2012 - Elsevier
Dravet syndrome (DS) is a childhood disorder associated with loss-of-function mutations in
SCN1A and is characterized by frequent seizures and severe cognitive impairment. Animal …

Tau reduction prevents disease in a mouse model of D ravet syndrome

AL Gheyara, R Ponnusamy, B Djukic… - Annals of …, 2014 - Wiley Online Library
Objective Reducing levels of the microtubule‐associated protein tau has shown promise as
a potential treatment strategy for diseases with secondary epileptic features such as …

A two-hit story: seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies

AR Salgueiro-Pereira, F Duprat, PA Pousinha… - Neurobiology of …, 2019 - Elsevier
Abstract SCN1A (Na V 1.1 sodium channel) mutations cause Dravet syndrome (DS) and
GEFS+ (which is in general milder), and are risk factors in other epilepsies. Phenotypic …

[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 …

Focal Scn1a knockdown induces cognitive impairment without seizures

AC Bender, H Natola, C Ndong, GL Holmes… - Neurobiology of …, 2013 - Elsevier
Cognitive impairment is a common comorbidity in pediatric epilepsy that can severely affect
quality of life. In many cases, antiepileptic treatments fail to improve cognition. Therefore, a …

Convulsive seizures and some behavioral comorbidities are uncoupled in the Scn1aA1783V Dravet syndrome mouse model

S Fadila, S Quinn, A Turchetti Maia, D Yakubovich… - …, 2020 - Wiley Online Library
Abstract Objective Dravet syndrome (Dravet) is a severe childhood epileptic
encephalopathy. The disease begins with a febrile stage, characterized by febrile seizures …

[HTML][HTML] Disruption of hippocampal rhythms via optogenetic stimulation during the critical period for memory development impairs spatial cognition

ML Kloc, F Velasquez, RW Niedecker, JM Barry… - Brain stimulation, 2020 - Elsevier
Background Hippocampal oscillations play a critical role in the ontogeny of allocentric
memory in rodents. During the critical period for memory development, hippocampal theta is …

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

A Nissenkorn, Y Almog, I Adler, M Safrin, M Brusel… - PLoS …, 2019 - journals.plos.org
Mutations in the SCN1A gene, which encodes for the voltage-gated sodium channel NaV1.
1, cause Dravet syndrome, a severe developmental and epileptic encephalopathy. Genetic …

Cognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and Oscillations

AC Bender, BW Luikart, PP Lenck-Santini - PLoS one, 2016 - journals.plos.org
Brain oscillations play a critical role in information processing and may, therefore, be
essential to uncovering the mechanisms of cognitive impairment in neurological disease. In …