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[Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage].

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Abstract:

We have analyzed a set of multigenerational extended pedigrees ascertained from affected cases of idiopathic epilepsy in the Antioquian Neurologic Institute. All pedigrees show familial aggregation of several forms of non myoclonic idiopathic epilepsy. In a recent paper, we have demonstrated that generalized idiopathic epilepsy of the awakening type is better explained by the existence of a major gene. In this paper, we have explored by simulation techniques the usefulness of the bigger pedigrees for linkage analysis. By using simlink and taking into account the parameters of the major gene, we have estimated that total power of three families is approximately 100 million times favoring the linkage detection.These analyses suggest that the major gene accounting by the susceptibility to develop generalized idiopathic epilepsy of the awakening type could be localized by typifying affected families belonging to the Paisa community from Antioquia, Colombia (Acta Neurol Colomb 1997; 13: 69-75).

Tópico:

Genomics and Rare Diseases

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Citations: 1
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Información de la Fuente:

FuentePubMed
Cuartil año de publicaciónNo disponible
Volumen26
Issue149
Páginas50 - 2
pISSNNo disponible
ISSNNo disponible

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