The price of drug prescribed to infants in Canada with a rare and potentially dangerous form of epilepsy has jumped by 2,000 per cent practically overnight, upsetting specialists and parents.
Infantile spasms, also called West syndrome, is a catastrophic and rare form of epilepsy. It’s diagnosed in babies with seizures that show abnormal bursts in the brain’s electrical activity on an electroencephalogram or EEG.
Good news for people with epilepsy, bad
news for people with dirty thoughts: Researchers are one step closer to
actual mind reading. A University of Washington neuroscientist study published Jan. 28 in PLOS Computational Biology found that a system of electrodes on patients’ brains could decode human perception. The coolest part of all this happens to also be the scariest.
Glenn Buratti, who has epilepsy and autism, turned 6 in 2015. His mom invited his entire class to his birthday party, but no one came. Heartbroken, she posted about it in a Facebook group, and 15 local kids showed up, as well as firefighters, police officers, the county sheriff, and lots of presents. (source)
Like many people with autism, Lyall also has epilepsy. But she says that running has helped ease her seizures: “My autism doesn’t take over my days anymore,” said Lyall in a press release. “Although my lifelong seizures have recently become life-threatening, when I run, it relieves so much stress on my brain, allowing me to function much better through most days!“
November is epilepsy awareness month! Kiba has been seizure-free for 5 months now after being put on pheno on June 5th. We know it’s still there though, and there’s going to be a day where his meds aren’t enough, and it’s hard to stop from becoming complacent while waiting for that time. But he’s the happiest little fella ever and enjoying life, so that’s all that matters right now.
Working in mice, researchers at Duke University have discovered a
potential new class of drugs that may prevent the development of
temporal lobe epilepsy, one of the most common and devastating forms of
Temporal lobe epilepsy is particularly debilitating because it
strikes the areas of the brain responsible for memory and mood. As a
result, patients have impaired awareness during their seizures. These
individuals cannot drive a car because of the risks of harming
themselves or others, and are limited in the career options they can
There are treatments available for people with temporal lobe
epilepsy, including medications to help manage symptoms and, in rarer
cases, surgical removal of the temporal lobe, where the seizures
originate. But, as with many disorders that are intrinsic to the brain,
no drugs are available to prevent temporal lobe epilepsy or slow its
The new compound, reported in the Nov. 4 issue of Neuron, may
change that. More animal studies would be needed to move this drug
toward human clinical trials, but “what we hope is that we could use
this drug to intervene in patients who have had an episode of prolonged
seizures and give it to them briefly following that episode to protect
them from becoming epileptic,” said James McNamara, M.D., a professor in
the departments of neurobiology and neurology at Duke University.
At least some cases of temporal lobe epilepsy are thought to start
after a single episode of prolonged seizures that occurs early in life
in response to any number of events, like a high fever. Clinical
observations in humans and experiments using animal models of seizures
support this notion.
Research also has shown that a brain receptor called TrkB is
overactive after an episode of prolonged seizures and could be
responsible for turning the one-time event into a chronic disorder. In a
2013 study published in Neuron, McNamara’s group showed this
definitively by using a chemical-genetic approach to block TrkB
signaling in a mouse briefly following an episode of prolonged seizures.
The inhibition prevented later development of epilepsy.
However, TrkB was less-than-optimal as a drug target because its
activation has both desirable and undesirable consequences. One benefit
of its activation is that it protects neurons from dying following
Indeed, in the new study, McNamara’s group found that global
inhibition of TrkB signaling following seizures boosted the number of
dead neurons in the brain. The TrkB receptor is known to activate
several signaling pathways within cells, so McNamara and his colleagues
wondered whether distinct pathways downstream from TrkB might control
its desirable and undesirable effects.
“We reasoned that perhaps we could disentangle the signaling
pathways that produced the desirable consequences from the undesirable
consequences,” McNamara said. “And, if so, perhaps we could develop a
drug that selectively inhibited the pathway producing the undesirable
The cause of the subsequent seizures appeared to be phospholipase
C(gamma)1, an enzyme spurred into action by TrkB activation. The
scientists found that transgenic mice in which phospholipase Cγ1 was
unlinked from the TrkB receptor were less susceptible to seizures than
McNamara’s team then developed a small-protein drug, called pY816,
to prevent TrkB coupling with phospholipase Cγ1. The drug worked in
neurons incubating in a dish to prevent activation of phospholipase Cγ1
via TrkB. Then, when they infused it into the blood of the mice, pY816
reduced by half the amount of activated phospholipase Cγ1 in the brain.
Most importantly, giving pY816 to mice for just three days following
an episode of prolonged seizures reduced both the likelihood and
severity of epilepsy many weeks later. The scientists confirmed that the
drug was inhibiting activation of phospholipase Cγ1 in the mice.
Now the team hopes to take the steps to move pY816 to the clinic.
They’re also investigating how TrkB and phospholipase Cγ1 transform a
brain from normal to epileptic.
“The question is, how does the activation of this signaling pathway
modify the function of cells and circuits in the brain to produce
epilepsy?” McNamara said.
NOTHING hurts more than someone believing you are not in pain and you are just laying around doing nothing. I wish I could have a normal life. Nothing hurts a chronically ill person more than making fun of them for being sick. 💔
In epilepsy, nerve cells or neurons lose their usual rhythm, and ion channels, which have a decisive influence on their excitability, are involved. A team of researchers under the direction of the University of Bonn has now discovered a new mechanism for influencing ion channels in epilepsy. They found that spermine inside neurons dampens the neurons excitability. In epilepsy, spermine levels decrease, causing hyperexcitability. The researchers hope that their findings can be exploited to develop new therapies for epilepsies. They are reporting their findings in “The Journal of Neuroscience“.
Approximately one out of a hundred people suffer from epilepsy and one out of twenty suffer a seizure at least once during their lifetime. Seizures occur when many nerve cells in the brain fire in synchrony. Scientists are searching for the causes leading to this simultaneous excitation of brain cells. Researchers at the Department of Epileptology, the Institute for Neuropathology and the Institute for Molecular Psychiatry, together with the Caesar Research Center and the Hebrew University (Israel) have discovered a mechanism which previously was not thought to be involved in the development of epilepsy.
“Doormen” determine how many sodium ions are allowed in
Neurons integrate many inputs together to then determine an appropriate output, and sodium channels play a key role in both processes. “They play an important role in the excitation of nerve cell axons and signal transfer between various cells,” says Prof. Dr. Heinz Beck, who conducts research in experimental epileptology at the Department of Epileptology, at the Life & Brain center and the German Center for Neurodegenerative Diseases (DZNE). Like a type of door, sodium channels allow sodium ions to flow into nerve cells through tiny pores. They consist of large protein complexes located in the membranes of nerve cells. The scientists found a large increase in a certain sodium influx which significantly increased the excitability of cells in the epileptic animal.
For this reason, scientists working with Prof. Beck initially compared the sodium channel proteins from the brains of epileptic rats to those of healthy animals. “However, this did not reveal any increased formation of sodium channel proteins, which could have explained the overexcitation of nerve cells.” reports the epilepsy researcher. After a long search, the team of researchers found a completely different group of substances: the polyamines. Spermine belongs to this group; it is produced in cells and plugs the pores of the sodium channels from within. like a doorman. In this case, the influx of sodium ions is blocked and the excitation of the nerve cells is reduced.
Overexcitation is attenuated through administration of spermine
The scientists investigated how much of the seizure-inhibiting substance is present in the nerve cells of rats suffering from epilepsy and compared the values to those of healthy animals. “The amount of spermine in the cells of the hippocampus was significantly reduced in diseased animals as compared to the healthy animals,” report the lead authors Dr. Michel Royeck and Dr. Thoralf Optiz from Dr. Beck’s team. “Furthermore, the reduced spermine in the nerve cell led to increased excitability; the cells were more sensitive to input and generated more output” said fellow lead author Dr. Tony Kelly. The investigators tested this important finding, compensating for the deficiency in the nerve cells of epileptic rats by adding spermine back into the cell. As a result, the increase in sodium currents was reversed and the excitability of the neuron returned to normal.
The lower level of spermine in the epileptic rat’s brain was evidently caused by an upregulation of spermidine/spermine-N(1)-acetyltransferase. This enzyme breaks down the spermine which is important in the control of sodium channels. According to the scientists, this result could be a potential starting point for novel epilepsy therapies. “If a substance was available to reduce the activity of acetyltransferase back to normal levels, the lack of spermine and thus the symptoms of epilepsy could be mitigated,” speculates Prof. Beck. However, concrete therapeutic applications are still a long way off.
Image: This is what a neuron from the hippocampus of a rat looks like. The cell and it’s extensive processes are visualized using a fluorescent dye, filled via a glass pipette. The glass pipette, with dye, is shown on the left of cell body. Credit:
AG Heinz Beck/Uni Bonn.
Cannabidiol (CBD), a medical marijuana derivative, was effective in reducing seizure frequency and well-tolerated and safe for most children and young adults enrolled in a year-long study led by epilepsy specialists at NYU Langone Medical Center.
The research is in Lancet Neurology. (full access paywall)
Micro-map of hippocampus lends big hand to brain research
A new detailed map of the hippocampal region of the brain, compiled by
researchers at the Montreal Neurological Institute and Hospital-The
Neuro at McGill University, is helping the scientific community
accelerate research and develop better treatments for patients suffering
from epilepsy and other neurological and psychiatric disorders.
The team of researchers, led by Dr. Neda Bernasconi, a neuroscientist
specializing in the neuroimaging of epilepsy and co-founder of the
Neuroimaging of Epilepsy Laboratory (NOEL) at The Neuro, set out to
build and share a detailed model of the substructures making up one of
the key centres of the brain involved in epilepsy: the hippocampus. The
goal of their project, published on November 10 in Scientific Data, is to improve the tools available to researchers and clinicians working in the field around the globe.
is a neurological disorder characterized by a sudden, brief change in
the brain, expressed as a seizure. According to Epilepsy Canada,
approximately one percent of Canadians suffer from the condition and
more than 30% of patients with epilepsy do not respond to anti-epileptic
drugs. For these individuals, the surgical removal of the brain tissue
causing seizures is the only known effective treatment for controlling
the condition and improving quality of life.
order to compile this hippocampal atlas, researchers used MRI imagery
from a sample of 25 healthy individuals. They then used their expertise
in brain anatomy to label all the substructures composing the region,
providing a model of an average, healthy hippocampus. The end result is
analogous to a Google street view of this particular part of the brain.
With this tool, researchers will be better able to assess the pathology
of their patients by comparing their data to the atlas and will more
clearly be able to locate the areas in need of surgical intervention.
A tool for brain diseases experts of all levels
primary purpose was epilepsy. We wanted to be able to detect and
identify different substructures in the hippocampus to enable us to be a
lot more precise in our diagnosis and to pinpoint the affected region
to better target treatments”, said Dr. Bernasconi. “With this new
submillimetric dataset, made available through open science, we are not
just sharing MRI images, we are also transferring anatomical knowledge
and providing a statistical map that can be used by researchers and
clinicians of different levels of expertise anywhere in the world.”
tools hold promising therapeutic implications for epilepsy, but also
for other neurological and psychiatric disorders such as Alzheimer’s
disease, schizophrenia and depression. Crucially, the atlas provides
researchers with a non-invasive way to assess the impact of therapies
targeting this region of the brain and to thus develop better treatments
to improve the quality of life for their patients.