SCN1A‐related phenotypes: epilepsy and beyond

IE Scheffer, R Nabbout - Epilepsia, 2019‏ - Wiley Online Library
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 …

Sodium channelopathies in neurodevelopmental disorders

MH Meisler, SF Hill, W Yu - Nature Reviews Neuroscience, 2021‏ - nature.com
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 …

SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond

CA Remme - … Transactions of the Royal Society B, 2023‏ - royalsocietypublishing.org
Influx of sodium ions through voltage-gated sodium channels in cardiomyocytes is essential
for proper electrical conduction within the heart. Both acquired conditions associated with …

The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention

G Costagliola, A Orsini, M Coll… - Annals of Clinical …, 2021‏ - Wiley Online Library
The influence of the central nervous system and autonomic system on cardiac activity is
being intensively studied, as it contributes to the high rate of cardiologic comorbidities …

Soticlestat, a novel cholesterol 24-hydroxylase inhibitor shows a therapeutic potential for neural hyperexcitation in mice

T Nishi, S Kondo, M Miyamoto, S Watanabe… - Scientific Reports, 2020‏ - nature.com
Abstract Cholesterol 24-hydroxylase (CH24H) is a brain-specific enzyme that converts
cholesterol into 24 S-hydroxycholesterol, the primary mechanism of cholesterol catabolism …

[HTML][HTML] Sudden unexpected death in epilepsy: The neuro-cardio-respiratory connection

TA Manolis, AA Manolis, H Melita, AS Manolis - Seizure, 2019‏ - Elsevier
Sudden unexpected death in epilepsy (SUDEP) is the major cause of epilepsy-related
premature mortality which targets preferentially younger people. Its etiology remains …

Role of adenosine in epilepsy and seizures

FC Tescarollo, DM Rombo, LK DeLiberto… - Journal of caffeine …, 2020‏ - liebertpub.com
Adenosine is an endogenous anticonvulsant and neuroprotectant of the brain. Seizure
activity produces large quantities of adenosine, and it is this seizure-induced adenosine …

Role of the orexin system in the bidirectional relation between sleep and epilepsy: new chances for patients with epilepsy by the antagonism to orexin receptors?

C Berteotti, C Calvello, C Liguori - Epilepsia, 2023‏ - Wiley Online Library
Epilepsy is a common neurological disorder, affecting patients of all ages, reducing the
quality of life, and associated with several comorbidities. Sleep impairment is a frequent …

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights

ACH Ng, M Chahine, MH Scantlebury… - Journal of Neurology, 2024‏ - Springer
Pathogenic variants in genes encoding ion channels are causal for various pediatric and
adult neurological conditions. In particular, several epilepsy syndromes have been identified …

Blood pressure in seizures and epilepsy

RD Nass, KG Hampel, CE Elger, R Surges - Frontiers in neurology, 2019‏ - frontiersin.org
In this narrative review, we summarize the current knowledge of neurally mediated blood
pressure (BP) control and discuss how recently described epilepsy-and seizure-related BP …