CBD-enriched medical cannabis for intractable pediatric epilepsy: The current Israeli experience
April 27th, 2017
A retrospective study was conducted in five Israeli pediatric clinics examining the effect of cannabidiol (CBD) on children with intractable epilepsy. The results showed that CBD had a positive effect on seizure load and also was associated with improvements in behavior, language, communication, motor skills, and sleep. Some adverse events were also reported which included drowsiness, fatigue, gastrointestinal disturbances and irritability. Further clinical trials using CBD are warranted to validate these findings.
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment
February 15th, 2017
This article outlines recent findings in a variety of genetic mutations related to epilepsy, including SCN8A. It summarizes how precision medicine and gene discovery are facilitating rapid progress in the classification of epilepsy, as well as development of medications targeted toward patients with these specific genetic mutations.
Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy
February 13th, 2017
Recent experimentation through mouse models suggests that a N1768D mutation in SCN8A results in hyperexcitability and an elevated persistent sodium current in hippocampal neurons. This data suggests that SCN8A plays a role in neural excitability, which could explain the mechanism through which early infantile epileptic encephalopathy (EIEE) causes severe seizures and cognitive impairment.
Cardiac Arrhythmia in a Mouse Model of Sodium Channel SCN8A Epileptic Encephalopathy
October 23rd, 2016
De novo mutations in the SCN8A gene are at an increased risk for sudden unexpected death in epilepsy (SUDEP). In this study, the cardiac phenotype of a mouse model expressing the p.Asn1768Asp mutation in Scn8a was investigated for alterations in cardiac excitability. The authors observed prolongation of the early stages of action potential repolarization in mutated myocytes.
Detection of Fetal Seizures Guides Approach to Diagnosis and Treatment
October 10th, 2016
This paper describes the first reported case of a SCN8A mutation (p.Ile240Val) with clinical prenatal-onset seizures. Ultrasonography was found to be useful for identifying fetal seizures which may be treatable in utero. Finally the authors report that the clinical approach to fetal seizures should involve a multidisciplinary team.
SCN8A-Related Epilepsy with Encephalopathy
August 25th, 2016
A summary of the clinical characteristics of SCN8A-related epilepsy. This complete review covers everything from available testing and diagnostic procedures available for SCN8A-related epilepsy, to the management of symptoms, in order to serve as a point-of-care resource for clinicians.
The SCN8A Mutation p.ll1327Val Displays Elevated Sensibility to the Anticonvulsant Phenytoin
July 4th, 2016
In a recent study it was shown that high doses of phenytoin were effective in four patients with SCN8A encephalopathy. Researchers have created a cell line with a SCN8A mutation (p.Ile1327Val) to study the cell's response to phenytoin.
How Antiepileptic Drugs (AEDs) May Relate to Fracture Risk
June 21st, 2016
IFracture risk is a serious comorbidity in epilepsy and may relate to the use of antiepileptic drugs (AEDs). Many AEDs inhibit ion channel function, and the expression of these channels in osteoblasts raises the question of whether altered bone signaling increases bone fragility. This study aimed to confirm the expression of voltage-gated sodium (NaV) channels in mouse osteoblasts, and to investigate the action of carbamazepine and phenytoin on NaV channels.
SCN8A mutation in a child presenting with seizures and developmental delays
November 1st, 2016
Researchers identified a de novo missense SCN8A mutation (p.Leu267Ser, c.800T>C) in a 4 year old female. This case report provides information on the child's clinical presentation,family history, and genetic analysis.
Benign Infantile Seizures and Dyskinesia - An Unexpected Twist
December 22nd, 2015
SCN1A was initially discovered in GEFS+, an autosomal dominant familial epilepsy syndrome. SCN2A was first identified in Benign Familial Neonatal-Infantile Seizures (BFNIS), also representing an autosomal dominant familial epilepsy syndrome. SCN8A, the third epilepsy-related sodium channel gene, has only...
2015 - This is What You Need to Know About SCN8A
August 31st, 2015
In 2015, SCN8A has emerged as an important gene in epileptic encephalopathy. SCN8A encodes the voltage-gated sodium channel alpha subunit Nav1.6, and was first implicated in epileptic encephalopathy in 2012. Since then, approximately 100 cases of early-infantile...
SCN8A Encephalopathy - How it differs from Dravet Syndrome
January 13th, 2015
For some reason, SCN8A always met some resistance. In contrast to other epilepsy genes, it took a while for the community to embrace this gene as a genuine cause of epileptic encephalopathies. A recent publication in Neurology now investigates the phenotypic spectrum of SCN8A encephalopathy – and points out important features that distinguish this condition from Dravet Syndrome.
Genome Sequencing Finds Unknown Cause Epilepsy
February 23rd, 2012
Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.
It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code – referred to as the genome
Regulation of Thalamic and Cortical Network Synchrony by SCN8A
February 23rd, 2017
This article outlines the mechanisms through which a mutation in SCN8A results in seizures. Through experimentation in mouse models, researchers have found that decreased SCN8A function in the cortex can lead to convulsive seizure resistance, while decreased SCN8A function in the thalamus can generate absence seizures. The results of this study could motivate future research on the role of SCN8A in other thalamic processes including sleep, attention, and consciousness.
Progress in Epilepsy: Latest Waves of Discovery
February 22th, 2017
This article summarizes advancements in biotechnology and recent discoveries in epilepsy, which will prospectively be translated into distinct therapy options for the individual patient. These discoveries include the role of inflammatory cell types in the development of epilepsy, the use of intracranial neurostimulation in interrupting seizures, as well as a discussion of the role of bioinformatics in gene identification.
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4/27/2017 9:56:36 AM