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Epilepsy Syndromes
People with epilepsy may be classified into different syndromes based on specific clinical features. These features include the age at which seizures begin, the seizure types, and EEG findings, among others. Identifying an epilepsy syndrome is useful as it helps determine the underlying causes as well as deciding what anti-seizure medication should be tried. Epilepsy syndromes are more commonly diagnosed in infants and children. Some examples of epilepsy syndromes include benign rolandic epilepsy (2.8 per 100,000), childhood absence epilepsy (0.8 per 100,000) and juvenile myoclonic epilepsy (0.7 per 100,000). Severe syndromes with diffuse brain dysfunction caused, at least partly, by some aspect of epilepsy, are also referred to as epileptic encephalopathies. These are associated with frequent seizures that are resistant to treatment and severe cognitive dysfunction, for instance Lennox-Gastaut syndrome and West syndrome. Classification of Epilepsy syndromes Epilepsy syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex and allocortex. It is typically non-invasive, with the EEG electrodes placed along the scalp (commonly called "scalp EEG") using the International 10-20 system, or variations of it. Electrocorticography, involving surgical placement of electrodes, is sometimes called " intracranial EEG". Clinical interpretation of EEG recordings is most often performed by visual inspection of the tracing or quantitative EEG analysis. Voltage fluctuations measured by the EEG bioamplifier and electrodes allow the evaluation of normal brain activity. As the electrical activity monitored by EEG originates in neurons in the underlying brain tissue, the recordings made by the electrodes on the surface of the scalp vary in accordance with their orientation and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutagenesis
Mutagenesis () is a process by which the genetic information of an organism is changed by the production of a mutation. It may occur spontaneously in nature, or as a result of exposure to mutagens. It can also be achieved experimentally using laboratory procedures. A mutagen is a mutation-causing agent, be it chemical or physical, which results in an increased rate of mutations in an organism's genetic code. In nature mutagenesis can lead to cancer and various heritable diseases, and it is also a driving force of evolution. Mutagenesis as a science was developed based on work done by Hermann Muller, Charlotte Auerbach and J. M. Robson in the first half of the 20th century. History DNA may be modified, either naturally or artificially, by a number of physical, chemical and biological agents, resulting in mutations. Hermann Muller found that "high temperatures" have the ability to mutate genes in the early 1920s, and in 1927, demonstrated a causal link to mutation upon experimen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marseille
Marseille ( , , ; also spelled in English as Marseilles; oc, Marselha ) is the prefecture of the French department of Bouches-du-Rhône and capital of the Provence-Alpes-Côte d'Azur region. Situated in the camargue region of southern France, it is located on the coast of the Gulf of Lion, part of the Mediterranean Sea, near the mouth of the Rhône river. Its inhabitants are called ''Marseillais''. Marseille is the second most populous city in France, with 870,731 inhabitants in 2019 (Jan. census) over a municipal territory of . Together with its suburbs and exurbs, the Marseille metropolitan area, which extends over , had a population of 1,873,270 at the Jan. 2019 census, the third most populated in France after those of Paris and Lyon. The cities of Marseille, Aix-en-Provence, and 90 suburban municipalities have formed since 2016 the Aix-Marseille-Provence Metropolis, an Indirect election, indirectly elected Métropole, metropolitan authority now in charge of wider metropo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epileptologist
An epileptologist is a neurologist who specializes in the treatment of epilepsy. Epileptologists are experts in epileptic seizures and seizure disorders, anticonvulsants, and special situations involving seizures, such as cases in which all treatment intended to stop seizures has failed and epilepsy (especially poorly controlled epilepsy) in pregnant women. Some epileptologists specialize in treatment of epilepsy in children. The training required for expertise in epilepsy generally involves a residency in neurology or pediatric neurology followed by a fellowship in clinical neurophysiology or epilepsy. The American Board of Psychiatry and Neurology The American Board of Psychiatry and Neurology, Inc. (ABPN) is a not-for-profit corporation that was founded in 1934 following conferences of committees appointed by the American Psychiatric Association, the American Neurological Association, a ... first held subspecialty certifications in epilepsy after a vote in 2010 with ACGME-a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dravet Syndrome
Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before 1 year of age, with 6 months being the age that seizures, characterized by prolonged convulsions and triggered by fever, usually begin. Signs and symptoms Dravet syndrome has been characterized by prolonged febrile and non-febrile seizures within the first year of a child's life. This disease progresses to other seizure types like myoclonic and partial seizures, psychomotor delay, and ataxia. It is characterized by cognitive impairment, behavioural disorders, and motor deficits. Behavioural deficits often include hyperactivity and impulsiveness, and in more rare cases, autistic-like behaviours. Dravet syndrome is also associated with sleep disorders in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Absence Seizures
Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred to as petit mal seizures (from the French for "little illness", a term dated in the late 18th century). Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). Absence seizure is very common in children. It affects both sides of the brain. Epidemiology Absence seizures affect between 0.7 and 4.6 per 100,000 in the general population and 6% to 8% in children younger than 15 years. Childhood absence seizures account for 10% to 17% of all absence seizures. Onset is between 4 and 10 years and peaks at 5 to 7 years. It is more common in girls than in boys. Etiology An absence seizure is specifically caused by multifactorial inheritance. The voltage-gated T-type calcium channel is regulated by GABRG2, GABRG3, and CACNA1A2 genes. Inheritance of these genes is involved in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Childhood Absence Epilepsy
Childhood absence epilepsy (CAE), is one of the most frequent pediatric epilepsy syndromes. CAE is an idiopathic generalized epilepsy that occurs in otherwise normal children. The only seizure type at the time of diagnosis is the typical absence seizure. CAE is a well-known pediatric epilepsy syndrome affecting 10–17% of all children with epilepsy. It was previously known as pyknolepsy. The word pyknolepsy originates from the Greek piknoz (picnós), which means recurrent or grouped. The usual age of onset of CAE is between 4 and 10 years, with peak between 5 and 7 years. The typical absence seizure has a sudden onset of altered awareness and ends also abruptly. Electroencephalogram demonstrate characteristic "typical 3Hz spike-wave" generalized rhythmic discharges that begin and end abruptly. Prognosis is generally good with fair rates of response to treatment and with most patients growing out of their absencese. However, learning difficulties and seizure occurrence rates remain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Panayiotopoulos Syndrome
Panayiotopoulos syndrome (named after Chrysostomos P. Panayiotopoulos, C. P. Panayiotopoulos) is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly with autonomic epileptic seizures and autonomic status epilepticus. An expert consensus has defined Panayiotopoulos syndrome as "a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG [electroencephalogram] that shows shifting and/or multiple foci, often with occipital predominance." Signs and symptoms Panayiotopoulos syndrome occurs exclusively in otherwise normal children and manifests mainly with infrequent autonomic epileptic seizures and autonomic status epilepticus. Onset of seizures is from age 1 to 14 years with 76% starting between 3–6 years. Autonomic seizures consist of episodes of disturbed autono ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ruben Kuzniecky
Ruben Kuzniecky is a neurologist scientist who is Vice-chair academic affairs and professor of neurology at Northwell Health specializing in the field of epilepsy, epilepsy surgery and neuro-imaging. He was one of the first to recognize and prove that mesial temporal sclerosis, a common cause for difficulty in controlling temporal lobe epilepsy, can be identified with MRI scans. He also described the Kuzniecky Syndrome in 1991, also known as perisylvian polymicrogyria. The syndrome is characterized by seizures, cognitive abnormalities, and a peculiar inability to use the mouth and tongue muscles. This syndrome is recognized by as a specific malformation of the brain. Early life Kuzniecky was born in Panama City, Republic of Panama, the son of Betzalel and Sara Kuzniecky. His parents were educators and founded and directed schools in Panama such as the Instituto Alberto Einstein and later on the Instituto Pedagogico. Kuzniecky attended the Instituto Pedagogico in Panama and grad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rolandic Epilepsy
Benign Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epilepsy syndrome in childhood. Most children will outgrow the syndrome (it starts around the age of 3–13 with a peak around 8–9 years and stops around age 14–18), hence the label benign. The seizures, sometimes referred to as ''sylvian seizures'', start around the central sulcus of the brain (also called the centrotemporal area, located around the Rolandic fissure, after Luigi Rolando).Benign Rolandic epilepsy Retrieved August 8, 2008. Signs and symptoms 
The cardinal feat ...
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Nicotinic Acetylcholine Receptor
Nicotinic acetylcholine receptors, or nAChRs, are receptor polypeptides that respond to the neurotransmitter acetylcholine. Nicotinic receptors also respond to drugs such as the agonist nicotine. They are found in the central and peripheral nervous system, muscle, and many other tissues of many organisms. At the neuromuscular junction they are the primary receptor in muscle for motor nerve-muscle communication that controls muscle contraction. In the peripheral nervous system: (1) they transmit outgoing signals from the presynaptic to the postsynaptic cells within the sympathetic and parasympathetic nervous system, and (2) they are the receptors found on skeletal muscle that receive acetylcholine released to signal for muscular contraction. In the immune system, nAChRs regulate inflammatory processes and signal through distinct intracellular pathways. In insects, the cholinergic system is limited to the central nervous system. The nicotinic receptors are considered cholinergi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy is an epileptic disorder that causes frequent violent seizures during sleep. These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting, moaning, or crying are also common. ADNFLE is often misdiagnosed as nightmares. Attacks often occur in clusters and typically first manifest in childhood. There are four known loci for ADNFLE, three with known causative genes. These genes, ''CHRNA4'', ''CHRNB2'', and ''CHRNA2'', encode various nicotinic acetylcholine receptor α and β subunits. Signs and symptoms ADNFLE is a partial epilepsy disorder characterized by brief violent seizures during sleep. Seizures are complex, consisting of arm and leg movements, fist clenching, and vocalizations such as yelling and moaning. These seizures often occur in clusters and can first manifest in childhood. Diagnosis is often initially incorrectly made as nightmares ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
