Resumo

LICOURT OTERO, Deysi; CALA HERNANDEZ, Odilkys; TRAVIESO TELLEZ, Anitery  e  ORRACA CASTILLO, Miladys. Genetic heterogeneity in epilepsy: family reports. Rev Ciencias Médicas [online]. 2015, vol.19, n.1, pp. 141-150. ISSN 1561-3194.

Current knowledge suggests that epilepsy is clinically and genetically heterogeneous. Inherited factors seem to suggest any genetic susceptibility, but with any exceptions; on their own they are neither capable of provoking any clinical manifestations nor follow classic Mendelian inheritance patterns. The degree of genetic penetrance may depend greatly on other genes which, together with environmental factors, may contribute with the development and worsening of epilepsy. Genetic heterogeneity of epilepsy was described by reporting three families; other individuals have been studied in these families starting from index case, with consanguinity, suffering from several types of epilepsies, disabilities and diseases of multifactorial origin. This is a new topic applied to the field of medical genetics, projected towards the diseases of multifactorial origin.

Palavras-chave : Epilepsy [diagnosis]; Epilepsy [genetics]; Epilepsy [etiology]; Genetic heterogeneity.

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