Epilepsy
and Seizures: Hope Through Research
National Institute of Neurological Disorders and Stroke (NINDS). National
Institutes of Health.
 [for Professionals mainly]
What is Epilepsy? ... Genetic Factors ... Research
suggests that genetic abnormalities may be some of the most important factors
contributing to epilepsy. Some types of epilepsy have been traced to an
abnormality in a specific gene...
Molecular
genetics of human epilepsies
Louise Bate et al. Expert Reviews in Molecular Medicine, Cambridge University Press, December 10, 1999
[for Professionals mainly]
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 ...
Statement
on Genetic Testing
Epilepsy Foundatiom
[for Professionals mainly]
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 ...
Scientists
find genetic mutations associated with epilepsy
The University of Michigan. News and Information Services. March 29,
2000 (28)
[for Professionals mainly]
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 ...
National
Center for Biotechnology Information
[for Professionals mainly]
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 ...
Genética
de la Epilepsia
Antonio V. Delgado-Escueta et al .
[Spanish]
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 ...
Epilepsy Foundation
Epilepsy Foundation, 2007
[Support Groups]
Research ... Advocacy ... Information and Education ... News and publications
...
Guide
to Organizations Providing Epilepsy Support and Education
Massachusetts General Hospital, May 11, 2005
[Support Groups]
Austria, Australia, Canada, Usa ...
OMIM - Online Mendelian Inheritance in Man. Differential
Diagnosis - Epilepsy:
[for Professionals mainly]
- MYOCLONIC
EPILEPSY OF UNVERRICHT AND LUNDBORG
- CENTRALOPATHIC
EPILEPSY
- EPILEPSY,
CHILDHOOD ABSENCE, 1
- EPILEPSY,
PROGRESSIVE MYOCLONIC 2; EPM2A
- EPILEPSY,
PROGRESSIVE, WITH MENTAL RETARDATION; EPMR
- MYOCLONIC
EPILEPSY, BENIGN ADULT FAMILIAL
- EPILEPSY
AND YELLOW TEETH
- MYOCLONIC
EPILEPSY, JUVENILE, 1; EJM1
- EPILEPSY,
PARTIAL; EPT
- EPILEPSY,
NOCTURNAL FRONTAL LOBE, TYPE 1
- GENERALIZED
EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
- EPILEPSY,
NOCTURNAL FRONTAL LOBE, TYPE 2
- DENTATORUBRAL-PALLIDOLUYSIAN
ATROPHY; DRPLA
- EPILEPSY,
READING
- EPILEPSY,
GENERALIZED, IDIOPATHIC; EGI
- GENERALIZED
EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+
- EPILEPSY,
BENIGN NEONATAL, 1; EBN1
- EPILEPSY,
BENIGN OCCIPITAL; BOE
- MYOCLONIC
EPILEPSY, JUVENILE, 2
- MYOCLONIC
EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
- ROLANDIC
EPILEPSY AND SPEECH DYSPRAXIA
- EPILEPSY,
BENIGN NEONATAL, 2; EBN2
- MYOCLONIC
EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS
- EPILEPSY,
PHOTOGENIC
- EPILEPSY
WITH BILATERAL OCCIPITAL CALCIFICATIONS
- ALOPECIA,
PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY
- EPILEPSY,
FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR
- TRANSMEMBRANE
PROTEIN 1; TMEM1
- MENTAL
RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
- EPILEPSY,
PARTIAL, WITH VARIABLE FOCI
- DEAFNESS,
CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
- SPASTIC
PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM
- ATAXIA
WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
- EPILEPSY-TELANGIECTASIA
- BORJESON-FORSSMAN-LEHMANN
SYNDROME; BFLS
- RAMON
SYNDROME
- ALOPECIA-EPILEPSY-OLIGOPHRENIA
SYNDROME OF MOYNAHAN
- MYOCLONIC
EPILEPSY, PROGRESSIVE
- RETINAL
DEGENERATION AND EPILEPSY
- EPILEPSY,
PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
- MYOCLONIC
EPILEPSY, HARTUNG TYPE
- SPASTIC
PARAPLEGIA WITH MYOCLONIC EPILEPSY
- CYSTATIN
B; CSTB
- TRANSFER
RNA, MITOCHONDRIAL, LYSINE; MTTK
- CHOLINERGIC
RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4
- POTASSIUM
CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2
- HETEROTOPIA,
PERIVENTRICULAR
- CELIAC
DISEASE; CD
- ANGELMAN
SYNDROME; AS
- SODIUM
CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
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Last Updated: 2008/2/18
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