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    Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert

    Nonsyndromic seizure disorders: epilepsy and the use of the ... - NCBI Название: Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert
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    Nonsyndromic seizure disorders: epilepsy and the use of the ... - NCBI
    Annu Rev Genomics Hum Genet. 2003;4:437-57. Nonsyndromic seizure disorders: epilepsy and the use of the internet to advance research. Leppert MF(1 ) ...

    Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert

    For example, in families wherein epilepsy is referred to as fits, parents may make associations between a child with epilepsy and family members who are prone to fits of anger or alcoholic fits ( ). The full text of the hdsa guidelines is available on the columbia university hdsa center for excellence website ( url accessed 18 july, 2005). In three families with an autosomal dominant form of idiopathic generalized epilepsy (ige) with a range of different syndromes, mutations were identified in the chloride channel gene ).

    Escayg a, macdonald bt, meisler mh, baulac s, huberfeld g, an-gourfinkel i, brice a, leguern e, moulard b, chaigne d, buresi c, malafosse a. Continued acquisition of information on naturally occurring dna sequence variants will greatly help research directed towards understanding the genetic susceptibility of the common, nonsyndromic epilepsies and will lead to the promise of personalized medicine. This research should include the perspectives of people with epilepsy and their family members, as well as those of health care professionals, policymakers, and bioethicists.

    Clinical laboratories are defined as those that perform analyses and give results to providers andor patients for the purpose of diagnosis, prevention, or treatment, usually for a fee. For each, we note key empiric findings and discuss their implications with regard to the consequences of emerging genetic information about epilepsy. The american college of medical geneticsamerican society of human genetics (acmgashg) offers general guidelines for genetic counseling, screening, testing, as well as disease-specific guidelines ( url accessed 18 july, 2005).

    In the large group of people with non-mendelian forms of epilepsy, the genetic influences on risk probably consist mainly of complex disease genesthat is, genes with only a small effect, which act additively to increase risk, possibly in combination with environmental factors ( ). However, as with the other guidelines described earlier, it offers less guidance for persons with epilepsy and their family members, as they consider the uses and meanings of genetic information in their lives. Research is needed to ascertain the ways in which genetic information may affect stigma, discrimination, social isolation, and other adverse outcomes associated with epilepsy.

    We also briefly review available principles and guidelines from professional and advocacy groups that might help to direct efforts to ascertain and address the ethical, legal, and social dimensions of genetic testing for epilepsy. Currently, genetic researchers are attempting to identify both genes that cause epilepsy via monogenic inheritance and genes associated with increased susceptibilities to epilepsy, including possible genetic predispositions to developing epilepsy after central nervous system trauma. This fear may be so strong as to constitute a special view of the world in which fear of enacted stigma dominates, and everyday life is organized to conceal the presence of the disease ( although perceived stigma might be more prevalent than actual experiences of stigma ( ), survey research in both the united states and britain suggests that people with epilepsy are often viewed as violent, likely to go berserk, retarded, sluggish or slow, antisocial, and physically unattractive ( ).

    Suzuki t, delgado-escueta av, aguan k, alonso me, shi j, hara y, nishida m, numata t, medina mt, takeuchi t, morita r, bai d, ganesh s, sugimoto y, inazawa j, bailey jn, ochoa a, jara-prado a, rasmussen a, ramos-peek j, cordova s, rubio-donnadieu f, inoue y, osawa m, kaneko s, oguni h, mori y, yamakawa k. Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (dravet syndrome) shahwan a, farrell m, delanty n. As evident in our review of social scientific research on epilepsy, the social consequences of genetic testing may be particularly acute for people with epilepsy, as they already experience significant stigma and discrimination. This article summarizes the effect that this burst of new genomic information has had on research aimed at discovering the underlying genetic factors for nonsyndromic epilepsy. Unverrichtlundborg disease, lafora disease, and the neuronal ceroid lipofuscinoses ( ), and cortical malformation syndromes such as polymicrogyria, pachygyria, and periventricular nodular heterotopia ( have been identified in many patients with severe myoclonic epilepsy of infancy (smei) ( these gene discoveries are very exciting because they lead the way to research on basic pathophysiologic mechanisms that could someday be used to develop new treatments, or even to ways of preventing epileptogenesis.


    Ethical, Legal, and Social Dimensions of Epilepsy Genetics


    Purpose. Emerging genetic information and the availability of genetic testing has the ... Advances in research on epilepsy genetics have the potential to improve the .... For example, in GEFS+, the seizure disorders in family members who have ..... Cha

    Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert

    Highights in the History of Epilepsy: The Last 200 Years - NCBI - NIH
    Aug 24, 2014 ... The 19th century is marked by the works of the French medical school and of ... During the 20th century, the invention of EEG, the advance in neurosurgery ... research on the connection between genetic factors and epileptic seizures. ..
    Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert However, many of the issues raised by genetic testing for genes that increase risk for the development of epilepsy differ substantially from those raised by pharmacogenomics, In a large french canadian family with an autosomal dominant form of juvenile myoclonic epilepsy (jme), a mutation was identified in , encoding a protein with an ef-hand motif that appears to influence calcium currents, were identified in another set of families with jme ( ). Heron se, crossland km, andermann e, phillips ha, hall aj, bleasel a, shevell m, mercho s, seni mh, guiot mc, mulley jc, berkovic sf, scheffer ie. The progress in understanding the genetics of nonsyndromic epilepsy is the direct result of dramatic advances made by the human genome project. This distinction is well illustrated in considering possible genetic testing for , in which mutations have extremely variable expressivity, ranging from simple febrile seizures in families with gefs to smei, The american college of medical geneticsamerican society of human genetics (acmgashg) offers general guidelines for genetic counseling, screening, testing. Current information about genetic testing for many disorders, including several forms of epilepsy, is available from the genetests website ( ), Stromme p.
  • Genetics and epilepsy - NCBI - NIH


    In the united states, the clinical laboratory improvement act (clia) requires that clinical laboratories be certified to meet certain federal quality and proficiency standards. It draws on these two literatures as a means of highlighting areas for future empirical research and for efforts to develop guidelines for genetic testing. Research is needed on the ethical, legal, and social concerns raised by genetic research on epilepsy and the advent of genetic testing. Sociological researchers have observed that parental efforts to reconcile themselves to a childs epilepsy diagnosis may include attributions of likeness between the person with epilepsy and family members thought to manifest analogous defects or genetic weaknesses ( ). Wallace rh, wang dw, singh r, scheffer ie, george al, jr, phillips ha, saar k, reis a, johnson ew, sutherland gr, berkovic sf, mulley jc.

    For example, genetic information might make it seem as if having epilepsy is an enduring and essential part of a person with epilepsy, even if it has been many years since that person has experienced a seizure. Along with the construction of these databases has been the development of efficient search algorithms for specific dna sequences and genetic information. People who identify stress as an etiologic agent frequently believe that alleviating stress will cure their epilepsy andor that lifestyle or environmental modifications will control their seizures ( ). The issue is maximizing net benefit, by minimizing the potential for adverse effects from labeling, while maximizing the potential for improved health outcomes. Until data are available to inform guidelines and policy making, people with epilepsy, their family members, and clinicians may find it helpful to draw on more general policy statements and guidelines to inform their choices and practices regarding genetic counseling and testing for epilepsy.

    The possibility of using genetic testing in the process of selecting treatments, although potentially advantageous to people with epilepsy, also raises complex ethical and social issues. Research is needed to ascertain the ways in which genetic information may affect stigma, discrimination, social isolation, and other adverse outcomes associated with epilepsy. In some cases, the knowledge that a form of epilepsy is caused by a mutation in a specific gene might be irrelevant for treatment, whereas in others, the knowledge might predict treatment response or obviate the need for difficult diagnostic procedures. Serratosa and two anonymous reviewers for their comments on earlier drafts of this manuscript and for the opportunity to submit a comprehensive review. Epilepsy also is associated with reduced social interactions, lower rates of marriage, lower reproductive rates, low self-reported health-related quality of life, and increased rates of psychological distress ( ). Stromme p, mangelsdorf me, shaw ma, lower km, lewis sm, bruyere h, lutcherath v, gedeon ak, wallace rh, scheffer ie, turner g, partington m, frints sg, fryns jp, sutherland gr, mulley jc, gecz j. This article summarizes the effect that this burst of new genomic information has had on research aimed at discovering the underlying genetic factors for nonsyndromic epilepsy. For example, ethical and legal concerns that are raised by genetic tests, generally, include appropriate informed consent, autonomy, confidentiality and privacy of genetic information, and the imperative of balancing individual, parental, and societal interests when considering genetic testing for a minor. Haug k, warnstedt m, alekov ak, sander t, ramirez a, poser b, maljevic s, hebeisen s, kubisch c, rebstock j, horvath s, hallmann k, dullinger js, rau b, haverkamp f, beyenburg s, schulz h, janz d, giese b, muller-newen g, propping p, elger ce, fahlke c, lerche h, heils a. Wallace rh, marini c, petrou s, harkin la, bowser dn, panchal rg, williams da, sutherland gr, mulley jc, scheffer ie, berkovic sf.

    The term “epilepsy” describes a heterogeneous group of disorders, most of them .... The seizures are mostly unprovoked, generalized, or multifocal, and of the tonic ... “benign” should be used to describe the course of the disorder, since several .....

    Mark F. Leppert, Ph.D. – Emeritus – Human Genetics

    In turn, these discoveries will lead to new preventions for inherited disorders. ... from DNA sequence research to the problem of large-scale and rapid genotyping . ... of epilepsy, particularly a specific type in which intermittent seizures appear at .
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  • Nonsynromic seizure disorders - Epilepsy and the use of the internet to andvance reseach Mark F. Leppert
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