Approximately 5% to 10% of epilepsies are occipital lobe epilepsies, according to the Epilepsy Foundation.
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"There is considerable experience, including my own, in using cannabidiol for use in catastrophic childhood epilepsies," Wilfong said.
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"Today's announcements represent an important step forward for people affected by severe and treatment-resistant epilepsies," he said.
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" He added that the drug offers families "the first and only FDA-approved cannabidiol medicine to treat two severe, childhood-onset epilepsies.
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"We believe that this result further demonstrates that Epidiolex offers the potential to be a new effective therapy within the field of treatment-resistant childhood-onset epilepsies," GW Pharma CEO Justin Gover said in the report.
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The authors wrote that the man's case was uncommon, since occipital lobe epilepsies typically present early in life and are associated with a presence of abnormal brain structures, but an MRI scan revealed that the man did not have them.
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Focal seizures are usually only seen in certain types of reflex epilepsies such as occipital lobe seizures in photosensitive occipital lobe epilepsies or temporal lobe seizures in musicogenic epilepsies. Focal seizures can be located only in the area of the brain responsible for the stimulus, spread to other areas of the brain, or even develop into a generalized seizure.
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The Epilepsies: Seizures, Syndromes and Management. Oxford: Bladon Medical Publishing; 2005. 258-261.
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Symptomatic occipital seizures can start at any age, as well as any stage after or during the course of the underlying causative disorder. Idiopathic occipital epilepsy usually starts in childhood. Occipital epilepsies account for approximately 5% to 10% of all epilepsies.
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London: Springer, 2010:497–531.Covanis A. Jeavons syndrome. In: Panayiotopoulos CP, editor. Atlas of epilepsies.
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Due to the large variance between the different kinds of reflex epilepsies, the specific mechanism causing reflex seizures may vary.
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The Institute is led by its Director, Professor Steven Petrou, who specialises in the underlying electrophysiological basis of genetic childhood epilepsies.
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Arguably his most important contribution was to head the international commission for standardization of terminology and classification of the epilepsies[Dreifuss FE. The epilepsies: clinical implications of the international classification. Epilepsia 1990;31:S3-10Commission on Epidemiology and Prognosis, International League Against Epilepsy (1993). "Guidelines for epidemiologic studies on epilepsy. Commission on Epidemiology and Prognosis, International League Against Epilepsy".
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The most common types of myoclonus include action, cortical reflex, essential, palatal, those seen in the progressive myoclonus epilepsies, reticular reflex, sleep and stimulus-sensitive.
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There may be an increased family history of epilepsies (37% of cases) or migraine (16% of cases) but a family history of similar seizures is exceptional.
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In: Panayiotopoulos CP, editor. The Epilepsies: Seizures, Syndromes and Management.Oxford: Bladon Medical Publishing; 2005. p. 258-61. It is unclear if there are any benefits to clobazam over other seizure medications.
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Pearl published his first book, Inherited Metabolic Epilepsies, in 2012. His second book, Neuro-logic: A Primer on Localization, was released in March, 2014, and is currently being translated into Japanese.
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This syndrome was later named the Dravet syndrome,Dravet C, Roger J, Bureau M, Dalla Bernardina B. Myoclonic epilepsies in childhood. In: Akimoto H, Kazamatsuri H, Seino M, Ward AA Jr, eds.
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Unverricht–Lundborg disease is also known as EPM1, as it is a form of progressive myoclonic epilepsy (PME). Other progressive myoclonic epilepsies include myoclonus epilepsy and ragged red fibers (MERRF syndrome), Lafora disease (EPM2a or EMP2b), Neuronal ceroid lipofuscinosis (NCL) and sialidosis. Progressive myoclonic epilepsies generally constitute only a small percentage of epilepsy cases seen, and ULD is the most common form. While ULD can lead to an early death, it is considered to be the least severe form of progressive myoclonic epilepsy.
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With current research, it is presumed that the most likely cause to produce vertigo are epilepsies occurring in the lateral temporal lobe. These abnormal electrical activities can either originate from within the temporal lobe or may propagate from an epilepsy in a neighboring region of the brain. Epilepsies in the parietal and occipital lobes commonly propagate into the temporal lobe inducing a vertiginous state. This electrical propagation across the brain explains why so many different symptoms may be associated with the vertiginous seizure.
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The working party had requested that the meeting should have a clinical theme, so the general area of "Basic Aspects of Neurochemistry Related to the Epilepsies" was chosen. Approximately 350 participants attended the meeting.
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Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
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Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172. “Autonomic status epilepticus is an autonomic seizure which lasts for more than 30 minutes, or a series of such seizures over a 30 minute period without full recovery between seizures.”Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
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Clonazepam, like other benzodiazepines, while being a first-line treatment for acute seizures, is not suitable for the long- term treatment of seizures due to the development of tolerance to the anticonvulsant effects. Clonazepam has been found effective in treating epilepsy in children, and the inhibition of seizure activity seemed to be achieved at low plasma levels of clonazepam. As a result, clonazepam is sometimes used for certain rare childhood epilepsies; however, it has been found to be ineffective in the control of infantile spasms. Clonazepam is mainly prescribed for the acute management of epilepsies.
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By definition of an idiopathic epilepsy, all tests other than the EEG are normal. However, high resolution brain magnetic resonance imaging is probably mandatory because of the high incidence of symptomatic occipital epilepsies with the same clinico-EEG manifestations.
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In: Panayiotopoulos CP, editor. Atlas of epilepsies. London: Springer; 2010. 1077-1080. Ictal EEG, preceded by regression of occipital paroxysms, is characterised by the sudden appearance of an occipital discharge that consists of fast rhythms, fast spikes or both.
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Idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) is a pure but rare form of idiopathic occipital epilepsy that affects otherwise normal children and adolescents. It is classified amongst benign idiopathic childhood focal epilepsies such as rolandic epilepsy and Panayiotopoulos syndrome.
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Clinical syndromes in which epilepsy is not the main feature (e.g. Angelman syndrome) were categorized symptomatic but it was argued to include these within the category idiopathic. Classification of epilepsies and particularly of epilepsy syndromes will change with advances in research.
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Oil of brick was used in pre-modern medicine as a treatment for tumors, in the spleen, in palsies, and epilepsies. It was used by lapidaries as a vehicle for the emery by which stones and gems were sawn or cut.
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Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 2006; 48(3):236-240.Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
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Epilepsia 34 (4): 592–6. His classification, arrived at through a combination of clinical relevance and diplomacy, stands still as the international standard. The standardization of terms have allowed research protocols and clinical practice to discuss the epilepsies in a common language.
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Severed Heads, an Australian industrial pop group active in the 1980s, released on their 1983 album “Since the Accident” a cut entitled “Epilepsy ‘82”. This song featured a recording of one of Dreifuss’ lectures on the classification of the epilepsies as background.
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Pierre Flor-Henry (March 1, 1934 - ) is a Canadian psychiatrist, researcher, lecturer, and professor. His most important initial contribution was the demonstration in the study of epileptic psychosis, that schizophrenia relates to left and manic-depressive states relate to right hemisphere epilepsies (Epilepsia, 1969).
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Labeled lobes of the brain. Observe the spatial relationship between lobes. Because the temporal, occipital, and parietal lobes are so close, electrical activity can easily travel between them. Vertiginous epilepsies are included in the category of the partial epilepsy in which abnormal electrical activity in the brain is localized.
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Occipital seizures are triggered mainly during the day, through television, video games or any flicker stimulatory system. Occipital seizures originate from an epileptic focus confined within the occipital lobes. They may be spontaneous or triggered by external visual stimuli. Occipital lobe epilepsies are etiologically idiopathic, symptomatic, or cryptogenic.
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It is known that epilepsies are due to over- excitability of neurons, which BK channels have a large impact on controlling hyperexcitability. Therefore, understanding could influence the treatment of epilepsy. Overall, BK channels are a target for future pharmacological agents that can be used for benevolent treatments of disease.
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The Dravet Syndrome Foundation’s Scientific Advisory Board (SAB) oversees the organization’s research activities. They review and approve all research grant applications and meet annually with other interested researchers and scientists to discuss innovative and promising research in the field of Dravet syndrome and associated epilepsies at DSF’s Research Roundtable.
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The ketogenic diet is a high fat, low carbohydrate diet reserved for intractable childhood epilepsies. There are no published reports on the use of the ketogenic diet in patients with ring chromosome 20 syndrome. However, its efficacy and safety are well established in other difficult to control epilepsy syndromes.
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Lowenstein's recent clinical and research interests include the genetic factors thought to underlie many forms of epilepsies (idiopathic epilepsies) and the management and treatment of patients with status epilepticus (unusually prolonged seizures). His laboratory studies (carried out from 1989 to 2002) have addressed the fundamental mechanisms of neuronal network remodeling that occur during epileptogenesis; i.e. the process in which a normal network transforms into a hyperexcitable network capable of producing or relaying seizure activity. The main efforts of his research group focused on the various forms of cellular reorganization that are observed in humans with temporal lobe epilepsy, and the parallels between reorganization in the adult nervous system and normal developmental processes.
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Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.
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Epilepsia 2007; 48(6):1044-1053Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
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Oxford: Elsevier Academic, Amsterdam, pp. 233–248. The colony, initially developed in Strasbourg (France), is maintained at the University of Grenoble Alpes (France) under Inserm licence.Depaulis, A., David, O., Charpier, S., 2015. The genetic absence epilepsy rat from Strasbourg as a model to decipher the neuronal and network mechanisms of generalized idiopathic epilepsies.
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The most effective anti-epileptic medication for JME is valproic acid (Depakote). Due to valproic acid's high incidence of fetal malformations, women of child-bearing age are started on alternative medications such as Lamotrigine, levetiracetam. Carbamazepine may aggravate genetic generalized epilepsies and as such its use should be avoided in JME. Treatment is lifelong.
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Epilepsia 2007; 48(6):1054-1061. However, though Panayiotopoulos syndrome is benign in terms of its evolution, autonomic seizures are potentially life-threatening in the rare context of cardiorespiratory arrest.Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view.
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The International League Against Epilepsy (ILAE) identified epilepsy caused by a specific stimuli in 1989 in their official definition of epilepsy and more recently, has updated this definition to recognize new types of focal and generalized seizures. Currently reflex epilepsies are classified as miscellaneous types of epilepsy and are identified by the type of triggering stimulus.
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Originally called Doose syndrome, epilepsy with myoclonic-astatic seizures accounts for ~2% of childhood epilepsies. Children with this disorder have incredibly brief (<100ms) myoclonic jerks followed by equally brief loss of muscle tone, sometimes resulting in dangerous falls. Some patients have much longer lasting seizures of this type. Many patients with this disorder also have absence seizures.
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Also known as pyknolepsy, childhood absence epilepsy (CAE) represents up to 10% of all childhood epilepsies. It first manifests in childhood between the ages of 4 and 8 as brief periods of unconsciousness (absence). Mutations in the calcium channel α subunit encoding gene CACNA1H and the GABA receptor γ subunit encoding gene GABRG2 yield susceptibility for CAE.
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In Fejerman N. eds. Benign focal epilepsies in infancy, childhood and adolescence. Paris. John Libbey Eurotext : 51-62 and PD have been classified as reflex epilepsies.Indeed, attacks of PKC and epileptic seizures have several characteristics in common, they both are paroxysmal in presentation with a tendency to spontaneous remission, and a subset of PKC responds well to anticonvulsants.
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In the early stages, it can be difficult to distinguish progressive myoclonic epilepsy from benign idiopathic generalised epilepsies, such as juvenile myoclonic epilepsy. With PME, the initial effectiveness of anticonvulsant treatment diminishes as seizures become more frequent and neurological decline progresses. However, these can also be signs of anticonvulsant intoxication. The myoclonus in PME is usually severe and is the prominent seizure type.
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Nitrazepam is not recommended for use in those under 18 years of age. Use in very young children may be especially dangerous. Children treated with nitrazepam for epilepsies may develop tolerance within months of continued use, with dose escalation often occurring with prolonged use. Sleepiness, deterioration in motor skills and ataxia were common side effects in children with tuberous sclerosis treated with nitrazepam.
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The Dravet Syndrome Foundation (DSF) is a volunteer run, non-profit organization based in the United States. The mission of the foundation is to raise research funds for Dravet's syndrome and related epilepsies, while providing support to affected individuals and families. The Dravet Syndrome Foundation is listed as a research and support organization on National Organization of Rare Diseases's (NORD) database.
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Also known as Janz syndrome, juvenile myoclonic epilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of cases of idiopathic generalized epilepsies. Many children with CAE go on to develop JME. JME first presents between the ages of 12 and 18 with prominent myoclonic seizures. These seizures tend to occur early in the morning.
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0.026% of all children in the Atlanta, Georgia metropolitan area were estimated to have LGS in 1997, which was defined as, "onset of multiple seizure types before age 11 years, with at least one seizure type resulting in falls, and an EEG demonstrating slow spike-wave complexes (<2.5 Hz)." The study concluded that LGS accounts for 4% of childhood epilepsies.
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Genetics is believed to be involved in the majority of cases, either directly or indirectly. Some epilepsies are due to a single gene defect (1–2%); most are due to the interaction of multiple genes and environmental factors. Each of the single gene defects is rare, with more than 200 in all described. Most genes involved affect ion channels, either directly or indirectly.
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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. Genetics is believed to play an important role in epilepsies by a number of mechanisms.
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They created mouse models, one with neurons defunct in CLOCK and the other with neurons lacking inhibitory cells. The mice without limited CLOCK suffered from epilepsy similar to humans. In 2017 she was awarded a Citizens United for Research in Epilepsy award to study the molecular CLOCK and sleep-associated seizures. She contributed to the 2012 book Jasper's Basic Mechanisms of the Epilepsies.
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It was used in treating heaviness of the head, giddiness, and dimness of sight, which proceeded apoplexies and epilepsies. In treating all afflictions and foulnesses of the viscera of the lower belly, it was believed inferior to nothing; for example, in treating jaundice, dropsies, and other mal-nutritioned states. It was regarded as superior in treating even the most obstinate chronic distemper (disturbance of the humour).
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Epileptic Disord 2010; 12(1):92-94 Autonomic status epilepticus is the more common type of nonfebrile status epilepticus in otherwise normal children and has been assessed in a consensus statement.Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
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In TLE, there is loss of neurons in region CA1 and CA3 of the hippocampus.de Lanerolle N. C. and Noebels J. L. (ed.) Jasper's basic mechanisms of the epilepsies: histopathology of human epilepsy. Oxford University Press 2012 chapter 30 . There is also damage to mossy cells and inhibitory interneurons in the hilar region of the hippocampus (region IV) and to the granule cells of the dentate gyrus.
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In reflex epilepsies, myoclonic seizures can be brought on by flashing lights or other environmental triggers (see photosensitive epilepsy). Familiar examples of normal myoclonus include hiccups and hypnic jerks that some people experience while drifting off to sleep. Severe cases of pathologic myoclonus can distort movement and severely limit a person's ability to sleep, eat, talk, and walk. Myoclonic jerks commonly occur in individuals with epilepsy.
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Panayiotopoulos syndrome probably affects 13% of children aged 3 to 6 years who have had 1 or more afebrile seizures and 6% of such children in the 1- to 15-year age group.Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes.
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Epilepsia 2007; 48(6):1044-1053Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286. Onset of seizures is from age 1 to 14 years with 76% starting between 3–6 years.
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In Europe, up until 1963, it was not uncommon to prescribe primidone and phenobarbital in combination, often with a stimulant. They were believed to be the most useful for seizures occurring upon awakening, while phenytoin was the most useful for nocturnal seizures. Primidone and phenobarbital were prescribed in combination with phenytoin in diffuse epilepsies. They were third and fourth line-agents, respectively, in the treatment of partial seizures.
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Recent studies have shown that specific neurological findings have affected idiopathic occipital lobe epilepsies. Occipital lobe seizures are triggered by a flash, or a visual image that contains multiple colors. These are called flicker stimulation (usually through TV) these seizures are referred to as photo-sensitivity seizures. Patients having experienced occipital seizures described their seizures as featuring bright colors, and severely blurring their vision (vomiting was also apparent in some patients).
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The most potent precipitating factor is eye closure, whether voluntary, involuntary or reflex. Most and, in some patients, all of the seizures are induced immediately after closure of the eyes in the presence of uninterrupted (non-flickering) light. Eye closure in total darkness is ineffective. Contrary to other forms of photosensitive epilepsies that are sensitive only to flickering lights, patients with Jeavons syndrome are also sensitive to bright, non-flickering lights.
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Epilepsy can have both genetic and acquired causes, with interaction of these factors in many cases. Established acquired causes include serious brain trauma, stroke, tumours and problems in the brain as a result of a previous infection. In about 60% of cases the cause is unknown. Epilepsies caused by genetic, congenital, or developmental conditions are more common among younger people, while brain tumors and strokes are more likely in older people.
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This then results in a specific area from which seizures may develop, known as a "seizure focus". Another mechanism of epilepsy may be the up-regulation of excitatory circuits or down-regulation of inhibitory circuits following an injury to the brain. These secondary epilepsies occur through processes known as epileptogenesis. Failure of the blood–brain barrier may also be a causal mechanism as it would allow substances in the blood to enter the brain.
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The XIIIth Epilepsy International Symposium (Advances in Epileptology). New York, Raven Press 1982: 135–140 which was confirmed by subsequent genetic discoveries and became a model for the genetic childhood epilepsies. From 1991 to 1993, Charlotte Dravet was a member of the Scientific Board of the French Foundation for Research on Epilepsy. From 1996 to 2004, she was a member of the Task Force on Classification and Terminology of the International League Against Epilepsy ILAE.
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A gradual reduction in dosage reduces the severity of the benzodiazepine withdrawal syndrome. Due to the risks of tolerance and withdrawal seizures, clonazepam is generally not recommended for the long-term management of epilepsies. Increasing the dose can overcome the effects of tolerance, but tolerance to the higher dose may occur and adverse effects may intensify. The mechanism of tolerance includes receptor desensitization, down regulation, receptor decoupling, and alterations in subunit composition and in gene transcription coding.
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Triggers may include various stimuli with the most common (75 to 80%) being flickering lights resulting in photosensitive seizures. Reflex epilepsies are generally thought to be genetic in origin. The inheritance pattern is dependent on the type of reflex epilepsy with some types lacking a specific genetic inheritance patterns. For example, photogenic epilepsy is thought to follow an autosomal dominant pattern with incomplete penetrance, while seizures triggered by proprioceptive stimuli do not follow an observable inheritance pattern.
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Clobazam is sometimes used for refractory epilepsies. However, long-term prophylactic treatment of epilepsy may have considerable drawbacks, most importantly decreased antiepileptic effects due to drug tolerance which may render long-term therapy less effective. Other antiepileptic drugs may therefore be preferred for the long-term management of epilepsy. Furthermore, benzodiazepines may have the drawback, particularly after long-term use, of causing rebound seizures upon abrupt or over-rapid discontinuation of therapy forming part of the benzodiazepine withdrawal syndrome.
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The only currently available method to diagnose Unverricht–Lundborg disease is a genetic test to check for the presence of the mutated cystatin B gene. If this gene is present in an individual suspected of having the disease, it can be confirmed. However, genetic tests of this type are prohibitively expensive to perform, especially due to the rarity of ULD. The early symptoms of ULD are general and in many cases similar to other more common epilepsies, such as juvenile myoclonic epilepsy.
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Many aspects of the pattern are still being researched and discovered, and still many aspects are uncertain. The spike- and-wave pattern is most commonly researched in absence epilepsy, but is common in several epilepsies such as Lennox-Gastaut syndrome (LGS) and Ohtahara syndrome. Antiepileptic drugs (AEDs) are commonly prescribed to treat epileptic seizures, and new ones are being discovered with fewer adverse effects. Today, most of the research is focused on the origin of the generalized bilateral spike-and-wave discharge.
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Reflex seizures are epileptic seizures that are consistently induced by a specific stimulus or trigger making them distinct from other epileptic seizures, which are usually unprovoked. Reflex seizures are otherwise similar to unprovoked seizures and may be focal (simple or complex), generalized, myoclonic, or absence seizures. Epilepsy syndromes characterized by repeated reflex seizures are known as reflex epilepsies. Photosensitive seizures are often myoclonic, absence, or focal seizures in the occipital lobe, while musicogenic seizures are associated with focal seizures in the temporal lobe.
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He graduated in medicine at the Karolinska Institutet in 1895, and received his doctorate at the Uppsala University in 1903. He also habilitated there that year for psychiatry and neurology, and in 1915 for racial research and racial biology. For his doctoral dissertation, Lundborg researched one of the genetic progressive myoclonus epilepsies first described by Heinrich Unverricht in 1891. Besides giving an account of the disease, he traced an affected family back to the 18th century, an analysis unique for that time.
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Bartolomei obtained his medical diploma as neurologist in 1994, followed a PhD in Neuroscience in 1997 from the Aix- Marseille University, and had a 1-year post-doctoral fellowship in 2004 at the MEG Center of the University of Amsterdam under the mentorship of Pr C.J. Stam. He is a specialist on epilepsies and mental disorders, and a world leader in the analysis of Stereo-EEG recordings. His current research activities are mainly focused in the presurgical evaluation of patients with drug resistant epilepsy.
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Grants are offered for research projects and postdoctoral fellowships directly related to Dravet syndrome and associated epilepsies. These grants fund initial research hypotheses that have not been fully explored. The results extracted from this type of research will help bring untested research to the point that it can qualify for larger governmental funding. Research applications are judged principally on novelty of the hypotheses, innovative approaches with a direct relevance and application to Dravet syndrome and related conditions, scientific quality, strength of approach, and likelihood of success.
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This registry (co-funded with ICE Epilepsy Alliance) is owned by University of Michigan Neurology Department and Miami Children's Hospital Brain Institute but is available to all interested researchers. It will collect basic information and genetic test results of individuals with Dravet syndrome and related epilepsies worldwide. The establishment of this registry will expedite future clinical trials and will serve to improve communication of ideas amongst interested researchers, as well as assure rapid distribution of any new information that may benefit patients and their families.
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Accompanying the onset of epilepsies is hippocampal sclerosis, also known as Ammon's horn sclerosis. Individuals afflicted suffer unilateral volume loss, as evidenced by MRI scans.Johns, P., Thom, M. (2008) Epilepsy and hippocampal sclerosis: cause or effect? Neuropathology Article, 8, 16-18 Hippocampal sclerosis involves neural loss and a selective mesial temporal sclerosis (MTS) danger and is likely caused by an overactivation of N-methyl-D-aspartate (NMDA) and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors by the surplus signaling of excitatory neurotransmitters.
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Panayiotopoulos syndrome is now the formally approved nomenclature for this syndrome in the new International League against Epilepsy report on classification,Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross HJ, Van Emde Boas W et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51:676-685. which abandoned a number of previously used descriptive terms such as early onset benign childhood epilepsy with occipital paroxysms, early onset benign childhood occipital epilepsy, nocturnal childhood occipital epilepsy.
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This annual meeting allows researchers, geneticists, neurologists, and other professionals with a strong interest in Dravet syndrome and related epilepsies to establish a “research roadmap”. By allowing this consortium of specialists to establish a plan, the Dravet Syndrome Foundation can facilitate the development and implementation of better treatments by funding research projects that address the critical challenges of this syndrome and which will offer the most promising breakthroughs at the fastest pace possible. This meeting takes place each year just prior to the commencement of the American Epilepsy Society (AES) Conference.
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In addition to private donations, private fundraising events, corporate sponsorships and grants, the Dravet Syndrome Foundation produces annual fundraising events. City Bash is the Dravet Syndrome Foundation's annual signature event where money is raised for research while honoring a professional who has gone above and beyond in the field of Dravet syndrome and related epilepsies. Steps Toward A Cure consists of family-friendly fundraising walks across the U.S, organized by families. Race for Research allows athletes to participate in an event of their choosing, while raising funds for DSF.
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The diagnosis of Jeavons syndrome is simple because the characteristic eyelid myoclonia, if seen once, will never be forgotten or confused with other conditions. Furthermore, the EEG with the characteristic eye-closure-related discharges and photosensitivity leaves no room for diagnostic error. Nevertheless, eyelid myoclonia is often misdiagnosed as facial tics, sometimes for many years. The symptom/seizure of eyelid myoclonia alone is not sufficient to characterise Jeavons syndrome, as it may also occur in symptomatic and cryptogenic epilepsies, which are betrayed by developmental delay, learning difficulties, neurological deficits, and abnormal MRI and background EEG.
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It also blocked photosensitive epilepsies in baboons. CPPene had a pharmacokinetic profile suitable for progressing to clinical trials, as it has no toxic byproducts, is excreted exclusively via the renal system, and remains unchanged in the brain. However, CPPene was removed from clinical trials, as it provided no suitable neuronal protection or beneficial treatment for epilepsy, and had side effects which led to many patients withdrawing from trials. A possible explanation for its lack of efficacy in trials is the relatively short therapeutic time window following ischaemic damage and the fact that a small amount of glutamate helps neuronal survival.
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Panayiotopoulos CP. Vomiting as an ictal manifestation of epileptic seizures and syndromes. J Neurol Neurosurg Psychiatr 1988; 51(11):1448-1451. Twenty-one were otherwise normal children (idiopathic cases constituting what is now considered Panayiotopoulos syndrome), and 3 had symptomatic epilepsies. Half of the seizures were lengthy, lasting for hours (autonomic status epilepticus). The EEG of the 21 idiopathic cases showed great variations: 12 had occipital paroxysms or spikes alone or with extraoccipital spikes; 2 had central spikes and giantsomatosensory evoked spikes; 2 had midline spikes; 1 had frontal spikes; 1 had brief generalized discharges; and 3 had consistently normal EEG.
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Phillip L. Pearl is an American child neurologist, author, and jazz pianist. He is the Director of Epilepsy and Clinical Neurophysiology at Boston Children's Hospital and William G. Lennox Chair and Professor of Neurology at Harvard Medical School. Pearl is a recognized leader in metabolic epilepsies and is renowned in his field for his expertise in succinic semialdehyde dehydrogenase deficiency, a rare neurometabolic disorder of GABA degradation. Pearl would frequently be spotted playing jazz piano in the lobby of Children's National Medical Center, where he was former Division Chief of Neurology prior to coming to Boston Children's Hospital.
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His chief interest was neurosurgery, which led him to work (already as a student) at the Laboratory for Neuroanatomy and at the Neurosurgical Clinic of the university. He received his PhD for his study of the histochemistry of focal epilepsies. In 1982 he became a professor at the Université Libre de Bruxelles and created the Department of Neurosurgery of the Erasme Hospital. In 1998, this department was nominated as the "First worldwide WHO Collaborating Centre for Research and Training in Neurosurgery" by the WHO. From 1989 to 1992, he was the head of the Belgian Society for Neurosurgery.
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Disease causing variants of the ATP1A3 gene are known to cause a variety of movement disorders and epilepsies. The known associations include a variety of syndromes: 1) Alternating hemiplegia of childhood (AHC) 2) Rapid onset dystonia-parkinsonism (RDP, also known as DYT12) 3) Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS/CAOS syndrome) 4) Developmental and epileptic encephalopathy 5) Fever induced paroxysmal weakness and encephalopathy (FIPWE) 6) Recurrent episodes of cerebellar ataxia (RECA) 7) Very early-onset schizophrenia In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.
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Fabrice Bartolomei is a French neurologist and neurophysiologist, Hospital practitioner and University Professor at Aix-Marseille University (AMU), leading the Service de Neurophysiologie Clinique of the Timone Hospital at the Assistance Publique - Hôpitaux de Marseille, and he is the medical director of the ‘Centre Saint-Paul - Hopital Henri Gastaut’. He is the coordinator of the clinical network CINAPSE that is dedicated to the management of adult and pediatric cases of severe epilepsies and leader of the Federation Hospitalo- Universitaire Epinext. He is also member of the research unit Institut de Neurosciences des Systèmes](INS), UMR1106, Inserm - AMU. He is the coordinator of the "Improving EPilepsy surgery management and progNOsis using Virtual brain technology" (EPINOV) project funded in the context of the RHU3 call.
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Heinrich Unverricht is most remembered for his research of epilepsy, especially his work with progressive myoclonus epilepsies (PME). In 1891 he described a form of PME that was later come to be known as "Unverricht- Lundborg disease" (sometimes referred also as "Wagner–Unverricht syndrome".). Equally notable, however, following Wagner (1863) and Virchow's (1866) initial clinical descriptions, in 1891 he developed the concept of an intimate connection between rash and muscle weakness that defined a new disorder: > "...it seems to me that the skin appearance plays such an important role in > the disease picture that the designation Polymyositis is not completely > accurate. In our case, the partnership of the skin and muscle disease allows > us to use the elocution Dermatomyositis..." (translation).
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Hemispherectomy or hemispherotomy involves removal or a functional disconnection of most, or all of, one half of the brain typically leaving the basal ganglia and thalamus. It is reserved for people with the most catastrophic epilepsies, such as those due to Rasmussen's encephalitis. If the surgery is performed on very young patients (2–5 years old), then the remaining hemisphere may acquire some motor control of the ipsilateral body due to neuroplasticity; in older patients, paralysis results on the side of the body opposite to the part of the brain that was removed with less prospect for recovery. A visual field defect is an unavoidable side effect, typically involving a homonymous hemianopia involving loss of the half of the visual field on the same side of the disconnected brain.
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