Source:http://linkedlifedata.com/resource/pubmed/id/16302874
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
2005-11-23
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| pubmed:abstractText |
Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database. Generalized seizures occur with different and similar semiologies, frequencies, and patterns, ages at onset, and outcomes in different IGEs, suggesting common neuroanatomical pathways for seizure phenotypes. However, the same seizure phenotypes respond differently to the same treatments in different IGEs, suggesting different molecular defects across syndromes. De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood. Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0013-9580
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| pubmed:author |
pubmed-author:AlonsoMaría ElisaME,
pubmed-author:BaileyJulia NJN,
pubmed-author:Delgado-EscuetaAntonio VAV,
pubmed-author:DurónReyna MRM,
pubmed-author:López-RuizMinervaM,
pubmed-author:Machado-SalasJesúsJ,
pubmed-author:Martínez-JuárezIris EIE,
pubmed-author:MedinaMarco TMT,
pubmed-author:MijaLizardoL,
pubmed-author:OrtegaRamón H CastroRH,
pubmed-author:Pascual-CastroviejoIgnacioI,
pubmed-author:Perez-GosiengfiaoKaterina TanyaKT,
pubmed-author:Ramos-RamírezRicardoR
|
| pubmed:issnType |
Print
|
| pubmed:volume |
46 Suppl 9
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
34-47
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:16302874-Adolescent,
pubmed-meshheading:16302874-Adult,
pubmed-meshheading:16302874-Age Distribution,
pubmed-meshheading:16302874-Anticonvulsants,
pubmed-meshheading:16302874-Child,
pubmed-meshheading:16302874-Child, Preschool,
pubmed-meshheading:16302874-Epilepsy, Generalized,
pubmed-meshheading:16302874-Female,
pubmed-meshheading:16302874-Humans,
pubmed-meshheading:16302874-Infant,
pubmed-meshheading:16302874-Infant, Newborn,
pubmed-meshheading:16302874-Male,
pubmed-meshheading:16302874-Middle Aged,
pubmed-meshheading:16302874-Molecular Biology,
pubmed-meshheading:16302874-Mutation,
pubmed-meshheading:16302874-Phenotype,
pubmed-meshheading:16302874-Prognosis,
pubmed-meshheading:16302874-Syndrome
|
| pubmed:year |
2005
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| pubmed:articleTitle |
Seizures of idiopathic generalized epilepsies.
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| pubmed:affiliation |
California Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA.
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| pubmed:publicationType |
Journal Article,
Comparative Study,
Review
|