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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 …
SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond
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 …
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
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 …
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 …
cholesterol into 24 S-hydroxycholesterol, the primary mechanism of cholesterol catabolism …
[HTML][HTML] Sudden unexpected death in epilepsy: The neuro-cardio-respiratory connection
Sudden unexpected death in epilepsy (SUDEP) is the major cause of epilepsy-related
premature mortality which targets preferentially younger people. Its etiology remains …
premature mortality which targets preferentially younger people. Its etiology remains …
Role of adenosine in epilepsy and seizures
Adenosine is an endogenous anticonvulsant and neuroprotectant of the brain. Seizure
activity produces large quantities of adenosine, and it is this seizure-induced adenosine …
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?
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 …
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
Pathogenic variants in genes encoding ion channels are causal for various pediatric and
adult neurological conditions. In particular, several epilepsy syndromes have been identified …
adult neurological conditions. In particular, several epilepsy syndromes have been identified …
Blood pressure in seizures and epilepsy
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 …
pressure (BP) control and discuss how recently described epilepsy-and seizure-related BP …