Links for Keyword: Epilepsy

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by Angie Voyles Askham About once a month throughout 2012, researchers from four labs at the University of California, San Francisco filed into a conference room in the early morning to hear the latest news on their ambitious project. The heads of the labs — Arturo Alvarez-Buylla, Scott Baraban, Arnold Kriegstein and John Rubenstein — had formed the company Neurona Therapeutics in 2008 to develop a new approach to treating neurological conditions, using cell therapy. Their goal was to transplant inhibitory interneurons into people’s nervous systems to treat the overexcited circuits that can give rise to conditions such as epilepsy, Alzheimer’s disease and neuropathic pain. These meetings had grown tense as researchers within the four groups struggled to see eye to eye on data interpretation, particularly when Cory Nicholas, then a postdoctoral researcher in Kriegstein’s lab, presented his protocol for producing the inhibitory interneurons. On those days, Nicholas would open his slide deck to reveal images of fluorescent cells on a large screen behind him — red and white branching blobs against a black background. Then the questions would come from Baraban’s group. Why do some of the cells seem to be the wrong kind? Are they forming tumors? Can we see the neighboring images? There were some in the audience who thought they were being shown only the best images, says Joy Sebe, a postdoc in Baraban’s lab at the time. Nicholas, for his part, says he welcomed the questioning — in science, he says, “your job is to challenge” — and Daniel Vogt, who was a postdoc Rubenstein’s lab at the time, says the back and forth was simply part of the scientific process. © 2023 Simons Foundation

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 28948 - Posted: 10.07.2023

Jon Hamilton A team of researchers has developed a new way to study how genes may cause autism and other neurodevelopmental disorders: by growing tiny brain-like structures in the lab and tweaking their DNA. These "assembloids," described in the journal Nature, could one day help researchers develop targeted treatments for autism spectrum disorder, intellectual disability, schizophrenia, and epilepsy. "This really accelerates our effort to try to understand the biology of psychiatric disorders," says Dr. Sergiu Pașca, a professor of psychiatry and behavioral sciences at Stanford University and an author of the study. The research suggests that someday "we'll be able to predict which pathways we can target to intervene" and prevent these disorders, adds Kristen Brennand, a professor of psychiatry at Yale who was not involved in the work. The study comes after decades of work identifying hundreds of genes that are associated with autism and other neurodevelopmental disorders. But scientists still don't know how problems with these genes alter the brain. "The challenge now is to figure out what they're actually doing, how disruptions in these genes are actually causing disease," Pașca says. "And that has been really difficult." For ethical reasons, scientists can't just edit a person's genes to see what happens. They can experiment on animal brains, but lab animals like rodents don't really develop anything that looks like autism or schizophrenia. So Pașca and a team of scientists tried a different approach, which they detailed in their new paper. The team did a series of experiments using tiny clumps of human brain cells called brain organoids. These clumps will grow for a year or more in the lab, gradually organizing their cells much the way a developing brain would. And by exposing an organoid to certain growth factors, scientists can coax it into resembling tissue found in brain areas including the cortex and hippocampus. © 2023 npr

Related chapters from BN: Chapter 7: Life-Span Development of the Brain and Behavior; Chapter 16: Psychopathology: Biological Basis of Behavior Disorders
Related chapters from MM:Chapter 13: Memory and Learning; Chapter 12: Psychopathology: The Biology of Behavioral Disorders
Link ID: 28940 - Posted: 10.03.2023

Functional neurologic disorder (FND) refers to a group of motor, sensory, or cognitive symptoms caused by an abnormality in how the brain functions. FND is distinct from other neurologic conditions such as epilepsy, stroke, and multiple sclerosis in that there is no overt structural damage in the brain. It's a dysfunction of the connections within the brain (the “software”) rather than the structure of the brain itself (the “hardware”). People with FND can experience involuntary movements, nonepileptic seizures, dizziness, blindness, numbness, fatigue, and pain. Memory and concentration also may be affected. An estimated four to 12 people per 100,000 will develop FND, according to the National Institutes of Health. Risk factors include adverse life experiences, having fibromyalgia or other disorders with no identifiable causes, and physical injury. Some people with FND have experienced abuse or neglect in their lives. FND is more common in women and occurs most frequently in people between the ages of 20 and 50, although adolescents and older people also can develop it. Symptoms can include leg and arm weakness or paralysis; nonepileptic convulsions; tremor; sudden, brief involuntary twitching or jerking of a muscle or group of muscles; tics; involuntary muscle contractions that cause slow, repetitive movements or abnormal postures; problems with walking, posture, or balance; speech or voice difficulties; persistent dizziness; and clouded thinking. To diagnose FND and distinguish it from other neurologic conditions, doctors (generally neurologists or neuropsychiatrists) conduct physical and neurologic examinations and ask questions about the person's health and medical and family histories. To evaluate for potential co-occurring conditions and to assist in developing a treatment plan, doctors also may order imaging scans and perform focused mental health and social history screenings. Other tests, which screen for other neurologic disorders, could include electromyography (to record electrical activity in muscles) and electroencephalography (to monitor the brain's electrical activity).

Related chapters from BN: Chapter 15: Emotions, Aggression, and Stress; Chapter 16: Psychopathology: Biological Basis of Behavior Disorders
Related chapters from MM:Chapter 11: Emotions, Aggression, and Stress; Chapter 12: Psychopathology: The Biology of Behavioral Disorders
Link ID: 28734 - Posted: 04.12.2023

Miryam Naddaf Virtual models representing the brains of people with epilepsy could help to enable more-effective treatments of the disease by showing neurosurgeons precisely which zones are responsible for seizures. The models, created using a computational system known as the Virtual Epileptic Patient (VEP), have been developed as part of the Human Brain Project (HBP), a ten-year European initiative focused on digital brain research. The approach is being tested in a clinical trial called EPINOV, to evaluate whether it improves the success rate of epilepsy surgery. “It’s an example of personalized medicine,” says Aswin Chari, a neurosurgeon at University College London. VEP uses “the patient’s own brain scans [and] the patient’s own brainwave-recording data to build a model and improve our understanding of where their seizures are coming from”. Life-changing surgery Epileptic seizures are brought on by abnormal brain activity, and around one-third of the 50 million people living with epilepsy worldwide do not respond to anti-seizure drugs. “For those people, surgery is a huge game changer,” says Chari. It aims to free patients from seizures by removing parts of the epileptogenic zone — the brain region that is thought to initiate seizures. To identify the epileptogenic zone, clinicians currently use scanning techniques such as magnetic resonance imaging (MRI) and electroencephalogram (EEG) to investigate brain activity. They also perform stereoelectroencephalography (SEEG), which involves placing up to 16 electrodes, each 7 centimetres long, through the skull to monitor the activity of specific areas for 1–2 weeks. © 2023 Springer Nature Limited

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 2: Functional Neuroanatomy: The Cells and Structure of the Nervous System
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Link ID: 28732 - Posted: 04.09.2023

By Lisa Sanders, M.D. “It’s happening,” the 58-year-old man said quietly. Dr. Mark Chelmowski looked over to observe his patient. He was leaning forward, elbows on table, head propped up on his hands. Beads of sweat suddenly appeared on the man’s brow. More popped up on his cheeks, then his jaw. Rivulets ran down the contours of his face, then dripped off his chin onto the table. The man’s eyes were closed. He almost seemed asleep. Chelmowski said his name. “Yes, doctor” was the only response the normally chatty man gave. It was as if he were somehow distracted by the profound sweating. The patient’s vital signs were normal. He didn’t have a fever. His blood pressure and heart rate were normal. Throughout the exam, the patient sat quietly sweating. The collar, front and back of his shirt darkened. Then, as abruptly as it started, it was over. He opened his eyes and looked at Chelmowski. The patient could see the surprise in his doctor’s face. Chelmowski knew about his episodes of sweating — the two of them had been trying to figure them out for the past five months — but he had not yet witnessed one. The first time it happened, the patient was in his car on the way to the gym when suddenly he felt intensely hot. It was a bright July day in the Milwaukee area and seasonably warm. But this heat felt as if it came from inside his body. A vague prickling sensation spread down his face and neck to his chest and back. His heart seemed to speed up and then — pow — he was drenched in sweat. He turned the car around and headed home. He was describing the strange event to his partner when it happened again. And again. Each episode lasted only a couple of minutes, but it was strange. The sweating was so excessive. After a fourth episode, the patient’s partner insisted they go to the emergency room. He had another bout in front of the E.R. doctor, who immediately admitted him to the hospital. He was worried the patient might be having a heart attack. Profuse sweating often accompanies myocardial infarctions, the doctor told him. But it wasn’t his heart. He was discharged the next day and encouraged to follow up with his primary-care doctor. © 2023 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 5: Hormones and the Brain
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 8: Hormones and Sex
Link ID: 28696 - Posted: 03.11.2023

Jon Hamilton When Tom's epileptic seizures could no longer be controlled with drugs, he started considering surgery. Tom – who asked that we not use his last name because he worries that employers might be alarmed by his medical history – was hoping doctors could remove the faulty brain tissue that sometimes caused him to convulse and lose consciousness. He underwent a grueling evaluation at the epilepsy center at the University of California, San Diego. Doctors removed a piece of his skull and placed electrodes on the surface of his brain. He spent a week in the hospital while doctors watched him having seizures. Then, he got bad news. "You're not an optimal surgery patient," he recalled the doctors telling him." We don't feel safe operating on you." That was in 2009. In 2018, with epilepsy taking a heavy toll on his work and family life, Tom went back to his doctors at UCSD to discuss treatment options. This time he met with Dr. Jerry Shih, the center's director. "I told him, you know what, we're in a unique situation now where we have some of the newer technologies that were not available" in 2009, Shih says. This time, the team inserted tiny electrodes into Tom's brain to find the primary source of his seizures. Then, in 2019, they used a laser to remove that bit of his brain. © 2023 npr

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 28665 - Posted: 02.15.2023

By Erika Check Hayden Weeks after Valeria Schenkel took an experimental drug named after her, the daily seizures that had afflicted her from birth became less frequent. But the drug caused fluid to build up in her brain, and a year later, she died at age 3. The drug was given to only one other child, and she experienced the same side effect and nearly died last year. The drug contained snippets of genetic material tailor-made to turn off the mutated gene causing the extremely rare form of epilepsy that these children were born with. A handful of researchers and nonprofit organizations have raised millions of dollars to make these treatments, known as antisense drugs, for at least 19 children and adults with severe diseases that are too rare to garner interest from pharmaceutical companies. The treatments have helped some of these patients, raising hopes that the personalized approach might one day save thousands of lives. But the brain side effect, known as hydrocephalus, reported on Sunday at the American Neurological Association meeting in Chicago, is a blow for the niche medical field that has made rapid progress over the past five years. Hydrocephalus happens when too much fluid fills cavities in the brain, increasing pressure on brain tissue and risking lethal damage if untreated. “I think it’s worth saying: No question that encountering hydrocephalus has been a setback, sobering and important,” said Dr. Timothy Yu, the neurologist and genetics researcher at Boston Children’s Hospital who developed the drug, known as valeriasen. But traditional drug companies, he added, are not helping patients with thousands of rare, untreatable and rapidly progressing diseases that cause death and severe disabilities. Personalized genetic treatments may be their only hope. “We have to learn as much as we can from each and every one, because they’re just so incredibly valuable in every sense,” Dr. Yu said. Scientists first imagined creating “antisense oligonucleotide” drugs — pieces of custom-made DNA or RNA designed to correct for genetic errors in cells — in the 1960s. But it took decades to make stable and effective versions of such drugs. © 2022 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 13: Memory and Learning
Link ID: 28529 - Posted: 10.28.2022

By Sandra G. Boodman For years Carter Caldwell had adamantly rejected doctors’ recommendations that he consider surgery to treat the frequent, uncontrolled seizures that were ravaging his brain. Caldwell, who had developed epilepsy when he was 28, regarded the operation that involved removing a portion of his brain as too big a risk — particularly because doctors weren’t sure what was causing the seizures and couldn’t pinpoint their location. Instead the Philadelphia business executive had organized his life to minimize certain foreseeable hazards: He lived downtown and didn’t drive. He didn’t push his toddler’s stroller. When taking the train he stood at the back of the platform — nowhere near the tracks in case he suddenly collapsed. His colleagues at work knew about his condition. But that calculus changed abruptly in November 2014. Caldwell, accompanied by his wife, Connie, and their 3-year-old son, was atop a hill at Pennsylvania’s Valley Forge National Historical Park posing for photos for a holiday card. Without warning he began an awkward shuffling walk that signified the onset of a seizure. Then he lost consciousness and fell head first down a rocky 15-foot embankment before landing at the edge of a stream. “Thankfully,” he said, “I didn’t roll into the stream.” He spent the next 2 1/2 weeks in a nearby hospital where a plastic surgeon performed multiple operations on his broken jawbone, lacerated cheek and shattered eye socket. “I remember him saying, ‘I can’t believe this happened in front of my family,’ ” recalled his longtime neurologist John R. Pollard, formerly associate director of the epilepsy center at the University of Pennsylvania. Pollard had warned Caldwell that his intractable seizures, which had proved resistant to numerous medications, placed him at risk for sudden death or serious injury. In September 2015 a successful operation unmasked the very unusual cause of Caldwell’s seizures, a culprit experts had long suspected but had been unable to definitively identify.

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 11: Emotions, Aggression, and Stress
Link ID: 28518 - Posted: 10.19.2022

By Lisa Sanders, M.D. “What just happened?” The 16-year-old girl’s voice was flat and tired. “I think you had a seizure,” her mother answered. Her daughter had asked to be taken to the pediatrician’s office because she hadn’t felt right for the past several weeks — not since she had what looked like a seizure at school. And now she’d had another. “You’re OK now,” the mother continued. “It’s good news because it means that maybe we finally figured out what’s going on.” To most people, that might have been a stretch — to call having a seizure good news. But for the past several years, the young woman had been plagued by headaches, episodes of dizziness and odd bouts of profound fatigue, and her mother embraced the possibility of a treatable disorder. The specialists she had taken her daughter to see attributed her collection of symptoms to the lingering effect of the many concussions she suffered playing sports. She had at least one concussion every year since she was in the fourth grade. Because of her frequent head injuries, her parents made her drop all her sports. Even when not on the playing field, the young woman continued to fall and hit her head. The headaches and other symptoms persisted long after each injury. She saw several specialists who agreed that she had what was called persistent post-concussive syndrome — symptoms caused either by a severe brain injury or, in her case, repeated mild injuries. She should get better with time and patience, the girl and her mother were told. And yet her head pounded and she retreated to her darkened room several times a week. She did everything her doctors suggested: She got plenty of sleep, rested when she was tired and tried to be patient. But she still got headaches, still got dizzy. She found it harder and harder to pay attention. For the past couple of years, it had even started to affect her grades. © 2022 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 19: Language and Lateralization
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 15: Language and Lateralization
Link ID: 28514 - Posted: 10.15.2022

James Brunton Badenoch Monkeypox’s effect on the skin – the disfiguring rashes – and the flu-like symptoms have been well described, but few have investigated the neurological and psychiatric problems the virus might cause. There are historic reports of neurological complications in people infected with the related smallpox virus and in people vaccinated against smallpox, which contains the related vaccinia virus. So my colleagues and I wanted to know whether monkeypox causes similar problems. We looked at all the evidence from before the current monkeypox pandemic of neurological or psychiatric problems in people with a monkeypox infection. The results are published in the journal eClinicalMedicine. A small but noticeable proportion of people (2% to 3%) with monkeypox became very unwell and developed serious neurological problems, including seizure and encephalitis (inflammation of the brain that can cause long-term disability). We also found that confusion occurred in a similar number of people. It’s important to note, though, that these figures are based on a few studies with few participants. Besides the severe and rare brain problems, we found evidence of a broader group of people with monkeypox who had more common neurological symptoms including headache, muscle ache and fatigue. From looking at the studies, it was unclear how severe these symptoms were and how long they lasted. It was also unclear how many people with monkeypox had psychiatric problems - such as anxiety and depression - as few studies looked into it. Of those that did, low mood was frequently reported.. © 2010–2022, The Conversation US, Inc.

Related chapters from BN: Chapter 17: Learning and Memory; Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 13: Memory and Learning; Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 28475 - Posted: 09.14.2022

Anastasia Brodovskaya Jaideep Kapur Epilepsy is a disease marked by recurrent seizures, or sudden periods of abnormal, excessive or synchronous neuronal activity in the brain. One in 26 people in the U.S. will develop epilepsy at some point in their life. While people with mild seizures might experience a brief loss of awareness and muscle twitches, more severe seizures could last for several minutes and lead to injury from falling down and losing control of their limbs. Many people with epilepsy also experience memory problems. Patients often experience retrograde amnesia, where they cannot remember what happened immediately before their seizure. Electroconvulsive therapy, a form of treatment for major depression that intentionally triggers small seizures, can also cause retrograde amnesia. So why do seizures often cause memory loss? We are neurology researchers who study the mechanisms behind how seizures affect the brain. Our brain-mapping study found that seizures affect the same circuits of the brain responsible for memory formation. Understand new developments in science, health and technology, each week One of the earliest descriptions of seizures was written on a Babylonian tablet over 3,000 years ago. Seizures can be caused by a number of factors, ranging from abnormalities in brain structure and genetic mutations to infections and autoimmune conditions. Often, the root cause of a seizure isn’t known. The most common type of epilepsy involves seizures that originate in the brain region located behind the ears, the temporal lobe. Some patients with temporal lobe epilepsy experience retrograde amnesia and are unable to recall events immediately before their seizure. © 2010–2022, The Conversation US, Inc.

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 17: Learning and Memory
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology; Chapter 13: Memory and Learning
Link ID: 28187 - Posted: 02.05.2022

By Katie Free, Joel Goldberg When it comes to our senses, we frequently focus on the external—the crack of thunder, the glare of sunlight, the fragrance of flowers—that captured our attention in the first place. But our bodies also have a whole host of internal senses that tell our brains whether our hearts are beating at the right speed, for example, or whether our blood pressure is too high. These signals travel constantly via hormones and nerves, including a mysterious 100,000-fiber network called the vagus nerve. Now, new techniques are helping scientists map the thin, twisting branches of the vagus nerve—which connects the brain to the heart, intestines, and other internal organs—and make surprising discoveries about its role in memory and emotion. These findings have spawned investigations into treatments for everything from Alzheimer’s disease to post-traumatic stress disorder and have led to the approval of medical implants to help treat epilepsy and depression. When it comes to understanding the brain-mind connection, a gut check might not hurt. © 2021 American Association for the Advancement of Science.

Related chapters from BN: Chapter 16: Psychopathology: Biological Basis of Behavior Disorders; Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 12: Psychopathology: The Biology of Behavioral Disorders; Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 27867 - Posted: 06.23.2021

By Diana Kwon Seizures are like storms in the brain—sudden bursts of abnormal electrical activity that can cause disturbances in movement, behavior, feelings and awareness. For people with epilepsy, not knowing when their next seizure will hit can be psychologically debilitating. Clinicians have no way of telling people with epilepsy whether a seizure will likely happen five minutes from now, five weeks from now or five months from now, says Vikram Rao, a neurologist at the University of California, San Francisco. “That leaves people in a state of looming uncertainty.” Despite the apparent unpredictability of seizures, they may not actually be random events. Hints of cyclical patterns associated with epilepsy date back to ancient times, when people believed seizures were tied to the waxing and waning of the moon. While this particular link has yet to be definitively proven, scientists have pinpointed patterns in seizure-associated brain activity. Studies have shown that seizures are more likely during specific periods in the day, indicating an association with sleep–wake cycles, or circadian rhythms. In 2018, Rao and his colleagues reported the discovery of long-term seizure-associated brain rhythms—most commonly in the 20- to 30-day range—which they dubbed as “multidien” (multiday) rhythms. By examining these rhythms in brain activity, the group has now demonstrated that seizures can be forecast 24 hours in advance—and in some patients, up to three days prior. Their findings, published December 17 in Lancet Neurology, raise the possibility of eventually providing epilepsy patients with seizure forecasts that could predict the likelihood that a seizure will occur days in advance. © 2020 Scientific American,

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 27631 - Posted: 12.19.2020

By Matt Richtel VALLEJO, Calif. — The adolescent patient turned sullen and withdrawn. He hadn’t eaten in 13 days. Treatment with steroids, phenobarbital and Valium failed to curb the symptoms of his epilepsy. Then, on Sept. 18, he had a terrible seizure — violently jerking his flippers and turning unconscious in the water. Cronutt, a 7-year-old sea lion, had to be rescued so he didn’t drown. His veterinarian and the caretakers at Six Flags Discovery Kingdom began discussing whether it was time for palliative care. “We’d tried everything,” said Dr. Claire Simeone, Cronutt’s longtime vet. “We needed more extreme measures.” On Tuesday morning, Cronutt underwent groundbreaking brain surgery aimed at reversing the epilepsy. If successful, the treatment could save increasing numbers of sea lions and sea otters from succumbing to a new plague of epilepsy. The cause is climate change. As oceans warm, algae blooms have become more widespread, creating toxins that get ingested by sardines and anchovies, which in turn get ingested by sea lions, causing damage to the brain that results in epilepsy. Sea otters also face risk when they consume toxin-laden shellfish. The animals who get stranded on land have been given supportive care, but often die. Cronutt may change that. “If this works, it’s going to be big,” said Mariana Casalia, a neuroscientist at the University of California, San Francisco, who helped pioneer the techniques that led to a procedure that took place a vet surgery center in Redwood City, Ca. © 2020 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 4: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Related chapters from MM:Chapter 3: The Chemistry of Behavior: Neurotransmitters and Neuropharmacology
Link ID: 27516 - Posted: 10.10.2020

by Nicholette Zeliadt An experimental drug prevents seizures and death in a mouse model of Dravet syndrome, a severe form of epilepsy that is related to autism, researchers reported 18 October 2019. The drug works by silencing a DNA segment called a ‘poison exon’ and is expected to enter clinical trials next year. If it works, it offers hope for treating not just Dravet, but other forms of autism as well: Another team has identified a poison exon in SYNGAP1, an autism gene that also causes epilepsy. Poison exons seem to impede the production of certain crucial proteins; blocking these segments would restore normal levels of the proteins. “The beauty of the technology,” says Gemma Carvill, assistant professor of neurology and pharmacology at Northwestern University in Chicago, Illinois, “is that “any gene that has a poison exon is potentially a target.” Several teams presented unpublished work on poison exons in a standing-room-only session at the 2019 American Society of Human Genetics meeting in Houston, Texas. People with Dravet often have autism, and most die in childhood2. The syndrome typically stems from mutations in a gene called SCN1A, which encodes an essential sodium channel in neurons. Only about 25 percent of mice with mutations in SCN1A live beyond 30 days of age. The new drug consists of short strands of ‘antisense’ RNA that restore normal levels of the channel, said Lori Isom of the University of Michigan, who presented the work. And all but 1 of 33 mice that received a single injection of the drug at 2 days of age remained alive 88 days later. © 2020 Simons Foundation

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 4: Development of the Brain
Link ID: 27437 - Posted: 08.29.2020

By Lisa Sanders, M.D. The early-morning light wakened the middle-aged man early on a Saturday morning in 2003. He felt his 51-year-old wife move behind him and turned to see her whole body jerking erratically. He was a physician, a psychiatrist, and knew immediately that she was having a seizure. He grabbed his phone and dialed 911. His healthy, active wife had never had a seizure before. But this was only the most recent strange episode his wife had been through over the past 18 months. A year and a half earlier, the man returned to his suburban Pittsburgh home after a day of seeing patients and found his wife sitting in the kitchen, her hair soaking wet. He asked if she had just taken a shower. No, she answered vaguely, without offering anything more. Before he could ask her why she was so sweaty, their teenage son voiced his own observations. Earlier that day, the boy reported, “She wasn’t making any sense.” That wasn’t like her. Weeks later, his daughter reported that when she arrived home from school, she heard a banging sound in a room in the attic. She found her mother under a futon bed, trying to sit up and hitting her head on the wooden slats underneath. Her mother said she was looking for something, but she was obviously confused. The daughter helped her mother up and brought her some juice, which seemed to help. With both episodes, the children reported that their mother didn’t seem upset or distressed. The woman, who had trained as a psychiatrist before giving up her practice to stay with the kids, had no recollection of these odd events. The Problem Is Sugar Her husband persuaded her to see her primary-care doctor. Upon hearing about these strange spells, the physician said she suspected that her patient was having episodes of hypoglycemia. Very low blood sugar sends the body into a panicked mode of profuse sweating, shaking, weakness and, in severe cases, confusion. She referred her to a local endocrinologist. © 2020 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 13: Homeostasis: Active Regulation of the Internal Environment
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 9: Homeostasis: Active Regulation of the Internal Environment
Link ID: 27341 - Posted: 07.02.2020

By Lisa Sanders, M.D. “Honey” — the woman could hear fear tightening her husband’s voice as he called out to her — “I think your mother just died.” She ran into the living room. Her 78-year-old mother sat rigid in a chair, her skin gray and lifeless. Her eyes were open but all white, as if she were trying to see the back of her own skull. Then her arms started to make little jerking movements; her lips parted as saliva seeped out the corner of her mouth onto her chin. Then her body slumped. She seemed awake but confused after this seizure-like episode. Should I call an ambulance? the husband asked. No, his wife responded. Her mother had a complicated medical history, including a kidney transplant 12 years before and an autoimmune disease. An ambulance would want to take her to the nearby Hartford Hospital. But her doctors were at Yale New Haven Hospital — some 30 miles from their home in Cromwell, Conn. They helped the woman into the car. It was only a half-hour drive to the hospital that March 10 evening, but it seemed to last forever. Would her mother make it? Her eyes were closed, and she looked very pale. Her other daughter worked at the hospital and was waiting with a wheelchair when they arrived. The daughters made sure that the doctors and nurses knew that their mother took two medications to keep her immune system from killing her transplanted kidney. Because of those immune-suppressing drugs, she’d had many infections over the years. Six months earlier, she nearly lost her kidney to a particularly aggressive bacterium. She’d been well since then, until a few days earlier when she came down with a cold. It was just a sore throat and a runny nose, but the couple were worried enough to move her into their home to keep an eye on her. She didn’t want to eat because of the pain in her throat, but otherwise she seemed to be doing well. © 2020 The New York Times Company

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 1: Introduction: Scope and Outlook
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 20:
Link ID: 27224 - Posted: 04.30.2020

Merrit Kennedy As doctors in London performed surgery on Dagmar Turner's brain, the sound of a violin filled the operating room. The music came from the patient on the operating table. In a video from the surgery, the violinist moves her bow up and down as surgeons behind a plastic sheet work to remove her brain tumor. The King's College Hospital surgeons woke her up in the middle of the operation in order to ensure they did not compromise parts of the brain necessary for playing the violin, such as parts that control precise hand movements and coordination. "We knew how important the violin is to Dagmar, so it was vital that we preserved function in the delicate areas of her brain that allowed her to play," Keyoumars Ashkan, a neurosurgeon at King's College Hospital, said in a press release. Turner, 53, learned that she had a slow-growing tumor in 2013. Late last year, doctors found that it had become more aggressive and the violinist decided to have surgery to remove it. In an interview with ITV News, Turner recalled doctors telling her, "Your tumor is on the right-hand side, so it will not affect your right-hand side, it will affect your left-hand side." "And I'm just like, 'Oh, hang on, this is my most important part. My job these days is playing the violin,' " she said, making a motion of pushing down violin strings with her left hand. Ashkan, an accomplished pianist, and his colleagues came up with a plan to keep the hand's functions intact. © 2020 npr

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals; Chapter 5: The Sensorimotor System
Link ID: 27054 - Posted: 02.20.2020

By Jennifer Couzin-Frankel Andrea VonMarkle arrived in Madison by helicopter ambulance 2 years ago, her life hanging in the balance. One month earlier she'd been a healthy 21-year-old juggling community college, waitressing, and weightlifting at a local gym. But after several weeks of feeling vaguely ill and forgetful, she was struck by a terrifying crisis. On New Year's Eve, VonMarkle's aunt had returned to the home they shared in northern Michigan to find her niece in trouble. "The door was open, and our dog was running down the street," VonMarkle says of the scene that greeted her aunt. "I just kept saying, ‘I don't know what's going on, and I don't know why I don't know.’" Then she started seizing. The seizures, which VonMarkle had never experienced before, didn't stop. Doctors at a local hospital were unable to quell her brain's electrical storm with powerful antiseizure medications. Because unremitting seizures can destroy brain tissue and damage other organs, the doctors put her into a medically induced coma. "They didn't know what to do with me," she says, "so they flew me to Madison," where the University of Wisconsin hospital had more resources and staff. VonMarkle, unconscious for weeks, wouldn't find out until much later what a stroke of luck that was. She became one of the first people whose sudden-onset, life-threatening epilepsy would be treated in a whole new way: not with standard antiseizure medications, but by disabling the deeper roots of the disease. For her, that meant a drug normally used for arthritis that seemed to soothe the inflammation powering her seizures. © 2019 American Association for the Advancement of Science.

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Link ID: 26896 - Posted: 12.13.2019

There are three treatment options commonly used by doctors in the emergency room to treat patients with refractory status epilepticus, severe seizures that continue even after benzodiazepine medications, which are effective in controlling seizures in more than two-thirds of patients. New findings published in the New England Journal of Medicine reveal that the three drugs, levetiracetam, fosphenytoin, and valproate, are equally safe and effective in treating patients with this condition. The study was supported by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health. “Doctors can be confident that the particular treatment they choose for their patients with status epilepticus is safe and effective and may help them avoid the need to intubate the patient as well as stays in the intensive care unit,” said Robin Conwit, M.D., NINDS program director and an author of the study. “This was a truly collaborative, multidisciplinary study that involved pediatricians, emergency medicine doctors, neurologists, pharmacologists, and biostatisticians all contributing their expertise.” In the Established Status Epilepticus Treatment Trial (ESETT), led by Robert Silbergleit, M.D., professor at the University of Michigan, Ann Arbor; Jordan Elm, Ph.D., professor at Medical University of South Carolina; James Chamberlain, M.D., professor at George Washington University; and Jaideep Kapur, M.B., B.S., Ph.D., professor at the University of Virginia, more than 380 children and adults were randomized to receive levetiracetam, fosphenytoin, or valproate when they came to the emergency room experiencing a seizure. The researchers were trying to determine which of the anticonvulsant drugs was most effective in stopping seizures and improving a patient’s level of responsiveness within 60 minutes of administering treatment.

Related chapters from BN: Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 2: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Link ID: 26870 - Posted: 12.04.2019