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 Epilepsy |
[*] Outstanding
[P] For Professionals
[Spanish]
[Italian]
[P] Molecular
genetics of human epilepsies
Louise Bate et al. The term epilepsy encompasses a heterogeneous group
of disorders, with a lifetime cumulative incidence of 3%. Genetic factors
are thought to contribute to the aetiology in up to 60% of cases.Various
molecular and cellular mechanisms give rise to epilepsy, and epilepsy genes
fall into several distinct categories. They include genes in which mutations
cause abnormal ion-channel function, disordered brain development, progressive
neurodegeneration and disturbances of cerebral energy metabolism ...
[P] Epilepsy
Syndromes: A Guide
The following is an simplified presentation of the International League
Against Epilepsy (ILAE) Commision's Classification by one clinician ...Epilepsy
is produced as a result of interaction between genetic factors, environmental
factors and intrinsic brain disease ...
[P] Statement
on Genetic Testing. Epilepsy Foundatiom
As our knowledge of genetics increases, the Foundation is concerned
that inadequate safeguards are in place to protect individuals from discrimination
based on their genes ...
[P] Scientists
find genetic mutations associated with epilepsy
The University of Michigan. News and Information Services. March 29,
2000 (28). University of Michigan scientists have found mutations in a
sodium channel gene that regulates electrical activity in nerve cells,
which may be the cause of one or more types of inherited epilepsy ... The
research was funded by the National Institutes of Health, the Swiss National
Science Foundation and the Association pour le Developpement de la Recherche
sur le Maladies Genetiques Neurologiques et Psychiatriques ...
[P] National
Center for Biotechnology Information
EPILEPSY AFFECTS approximately1% of the population making it one of
the most common neurological diseases ... Much progress has been made in
narrowing down regions of chromosomes associated with different forms of
epilepsy ... By focussing on the genetic basis for epilepsy, scientists
hope to develop more effective anti-convulsive treatments ...
[Italian] Epilessie
Le epilessie sono un gruppo di malattie caratterizzate da modificazioni
croniche, ricorrenti e parossistiche della funzione del sistema nervoso
centrale causate da alterazioni dell'attività elettrica cerebrale
... Fattori genetici influenzano lo sviluppo dell'epilessia e delle convulsioni
febbrili, e condizionano le caratteristiche del tracciato elettroencefalografico.
Le modalità di trasmissione ereditaria della suscettibilità
all'epilessia variano a seconda del tipo ...
[Spanish] Genética
de la Epilepsia
Antonio V. Delgado-Escueta et al . En la historia de la medicina la
concepción de que la epilepsia se hereda se remonta hasta la época
de Hipócrates ... Es significativo apuntar que la identificación
de las mutaciones responsables de las epilepsias generalizadas idiopáticas
puede resultar en el tratamiento curativo y eventual erradicación
del 25 al 35% de todas las epilepsias, que en total significan un costo
de 8 a 12 billones de dólares por año en Estados Unidos ...
[S] Epilepsy Foundation
Research ... Advocacy ... Information and Education ... News and publications
...
[S] Guide
to Organizations Providing Epilepsy Support and Education
Austria, Australia, Canada, Usa ...
[*][P] OMIM - Online Mendelian Inheritance in Man. Differential Diagnosis - Epilepsy:
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15/November/2002 R.C.
