Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations

G Lesca, RS Møller, G Rudolf, H Hjalgrim… - Epileptic …, 2019 - stm.cairn.info
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations |
Cairn.info Cairn.info, Matières à réflexion Cairn.info, Matières à réflexion No suggestions …

NMDA receptors in the central nervous system

KB Hansen, F Yi, RE Perszyk, FS Menniti… - … receptors: Methods and …, 2017 - Springer
NMDA-type glutamate receptors are ligand-gated ion channels that mediate a major
component of excitatory neurotransmission in the central nervous system (CNS). They are …

Regulation of microRNA Expression in Sleep Disorders in Patients with Epilepsy

E Dziadkowiak, J Chojdak-Łukasiewicz… - International journal of …, 2021 - mdpi.com
The effects of epilepsy on sleep and the activating effects of sleep on seizures are well
documented in the literature. To date, many sleep-related and awake-associated epilepsy …

GRIN2A and GRIN2B and Their Related Phenotypes

A Sapuppo, L Portale, CR Massimino… - Journal of Pediatric …, 2023 - thieme-connect.com
Glutamate is the most relevant excitatory neurotransmitter of the central nervous system; it
binds with several receptors, including N-methyl-D-aspartate receptors (NMDARs), a …

Unravelling Molecular Genetic Causes and Disease Mechanisms in Landau Kleffner Syndrome

A Ngoh - 2021 - discovery.ucl.ac.uk
The cost of epilepsy to an individual lies not just in the burden of having recurrent seizures
but also in the condition's neurodevelopmental, cognitive, psychological and social co …

[图书][B] Encephalopathy related to Status Epilepticus during slow Sleep: linking epilepsy, sleep disruption and cognitive impairment

G Rubolli, CA Tassinari - 2019 - books.google.com
In the last years, clinical data, neurophysiological and imaging investigations, as well as
genetic studies have renewed the interest on ESES. In addition, experimental findings from …

[PDF][PDF] Wpływ długotrwałego pobudzenia receptora NMDA w hodowanych astrocytach mysich na wybrane białka astrocytarne

K Skowrońska - 2019 - rcin.org.pl
Obecność komórek glejowych w ośrodkowym układzie nerwowym (OUN) udokumentowano
już w połowie XIX wieku [Virchow 1858, Parpura i Verkhratsky, 2012]. Od chwili ich wykrycia …