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SLC6A1 Epileptic Encephalopathy
SLC6A1 epileptic encephalopathy is a genetic disorder characterised by the loss-of-function of one copy of the human GABA transporter type 1, SLC6A1 gene. SLC6A1 epileptic encephalopathy can typically manifest itself with early onset seizures and it can also be characterised by mild to severe learning disability. Not all manifestations of the conditions are present in one given patient. Background Research published in 2015 linked mutations on the solute carrier family 6 member 1 protein (SLC6A1) to developmental and epileptic encephalopathies. SLC6A1 is present only on 13% of genetic panel testing, so the condition is very under-diagnosed. Currently an incidence of 1 in 38,000 births is reported. Signs and symptoms Owing to the limited number of patients diagnosed, the full extent of symptoms is not fully understood. Typically, the condition manifests itself via absence seizures, myoclonic-atonic epilepsy and mild-to-moderate learning disability. In addition, speech difficulties a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GABA Transporter Type 1
GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the ''SLC6A1'' gene and belongs to the solute carrier 6 (SLC6) family of transporters. It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole. Structure GAT1 is a 599 amino acid protein that consists of 12 transmembrane domains with an intracellular N-terminus and C-terminus. Function GAT1 is a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft by shuttling it to presynaptic neurons (where GABA can be recycled) and astrocytes (where GABA can be broken down). GABA Transporter 1 uses energy from the dissipation of a Na+ gradient, aided by the presence of a Cl− gradient, to translocate GABA across CNS neuronal membranes. The stoichiometry for GABA Transporter 1 is 2 Na+: 1 Cl−: 1 GABA. The presence of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC6A1
GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the ''SLC6A1'' gene and belongs to the solute carrier 6 (SLC6) family of transporters. It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole. Structure GAT1 is a 599 amino acid protein that consists of 12 transmembrane domains with an intracellular N-terminus and C-terminus. Function GAT1 is a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft by shuttling it to presynaptic neurons (where GABA can be recycled) and astrocytes (where GABA can be broken down). GABA Transporter 1 uses energy from the dissipation of a Na+ gradient, aided by the presence of a Cl− gradient, to translocate GABA across CNS neuronal membranes. The stoichiometry for GABA Transporter 1 is 2 Na+: 1 Cl−: 1 GABA. The presence of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Delay
Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. There is usually a specific condition which causes this delay, such as Fragile X syndrome or other chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition. Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development). Causes Developmental delay can be caused by learning disabilities, in which case the delay can usually be overcome with time and support - su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cognitive Impairment
Cognitive deficit is an inclusive term to describe any characteristic that acts as a barrier to the cognition process. The term may describe * deficits in overall intelligence (as with intellectual disabilities), * specific and restricted deficits in cognitive abilities (such as in learning disorders like dyslexia), * neuropsychological deficits (such as in attention, working memory or executive function), * or it may describe drug-induced impairment in cognition and memory (such as that seen with alcohol, glucocorticoids, and the benzodiazepines.) Cause It usually refers to a durable characteristic, as opposed to altered level of consciousness, which may be acute and reversible. Cognitive deficits may be inborn or caused by environmental factors such as brain injuries, neurological disorders, or mental illness. Screening Screening for cognitive impairment in those over the age of 65 without symptoms is of unclear benefit versus harm as of 2020. In a large population-base ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autistic
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historically, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vagus Nerve Stimulation
Vagus nerve stimulation (VNS) is a medical treatment that involves delivering electrical impulses to the vagus nerve. It is used as an add-on treatment for certain types of intractable epilepsy and treatment-resistant depression. Medical use VNS devices are used to treat drug-resistant epilepsy and treatment-resistant major depressive disorder (TR-MDD). In the United States, VNS is approved as adjunctive therapy for those 4 years of age or older with refractory focal onset seizures. In the European Union, VNS is approved as an adjunctive therapy for patients with either generalized or focal onset seizures without any age restrictions. It is recommended that VNS is only pursued following an adequate trial of at least 2 appropriately chosen anti-seizure medications and that the patient is ineligible for epilepsy surgery. This is because epilepsy surgery is associated with a higher probability of resulting in seizure freedom. Patients who have poor adherence or tolerance of ant ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Responsive Neurostimulation Device
Responsive neurostimulation device is a medical device that senses changes in a person's body and uses neurostimulation to respond in the treatment of disease. The FDA has approved devices for use in the United States in the treatment of epileptic seizures and chronic pain conditions. Devices are being studied for use in the treatment of essential tremor, Parkinson's disease, Tourette's syndrome, depression, obesity, and post-traumatic stress disorder. Medical Uses Epilepsy The use of neurostimulation to treat epileptic seizures is only recommended in those who have failed multiple medications for the treatment of their seizures. The NeuroPace RNS system was approved for use by the FDA in 2013 and is the only medical device for epilepsy that uses responsive neurostimulation. The device is surgically implanted into the patient's head with electrical leads placed near the site in the brain that is believed to be the origin of the patient's seizures. These leads record electri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketogenic Diet
The ketogenic diet is a high- fat, adequate-protein, low-carbohydrate dietary therapy that in conventional medicine is used mainly to treat hard-to-control (refractory) epilepsy in children. The diet forces the body to burn fats rather than carbohydrates. Normally carbohydrates in food are converted into glucose, which is then transported around the body and is important in fueling brain function. However, if only a little carbohydrate remains in the diet, the liver converts fat into fatty acids and ketone bodies, the latter passing into the brain and replacing glucose as an energy source. An elevated level of ketone bodies in the blood (a state called ketosis) eventually lowers the frequency of epileptic seizures. Around half of children and young people with epilepsy who have tried some form of this diet saw the number of seizures drop by at least half, and the effect persists after discontinuing the diet. Some evidence shows that adults with epilepsy may benefit from the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
