SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes
Ever since the first case was reported at the end of 2019, the severe acute respiratory
syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 …
syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 …
Seizures and epilepsy: an overview for neuroscientists
CE Stafstrom, L Carmant - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epilepsy is one of the most common and disabling neurologic conditions, yet we have an
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
JD Symonds, SM Zuberi, K Stewart, A McLellan… - Brain, 2019 - academic.oup.com
Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen… - Brain, 2022 - academic.oup.com
Brain voltage-gated sodium channel NaV1. 1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …
[HTML][HTML] Epilepsy-associated genes
J Wang, ZJ Lin, L Liu, HQ Xu, YW Shi, YH Yi, N He… - Seizure, 2017 - Elsevier
Abstract Development in genetic technology has led to the identification of an increasing
number of genes associated with epilepsy. These discoveries will both provide the basis for …
number of genes associated with epilepsy. These discoveries will both provide the basis for …
Drosophila tools and assays for the study of human diseases
Many of the internal organ systems of Drosophila melanogaster are functionally analogous
to those in vertebrates, including humans. Although humans and flies differ greatly in terms …
to those in vertebrates, including humans. Although humans and flies differ greatly in terms …
Эпилепсия у детей и взрослых женщин и мужчин
ВА Карлов - 2019 - elibrary.ru
В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
SCN1A‐related phenotypes: epilepsy and beyond
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …
Sodium channelopathies in neurodevelopmental disorders
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …