Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.

De Llano, C., Campuzano, O., Pérez Serra, A., Mademont, I., Coll, M., Allegue, C., Iglesias, A., Partemi, S., Striano, P., Oliva, A., Brugada, R., Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant, <<SEIZURE>>, 2015; 25 (Gennaio): 65-67. [doi:10.1016/j.seizure.2015.01.003] [http://hdl.handle.net/10807/65925]

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

Oliva, Antonio;
2015

Abstract

Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.
Inglese
De Llano, C., Campuzano, O., Pérez Serra, A., Mademont, I., Coll, M., Allegue, C., Iglesias, A., Partemi, S., Striano, P., Oliva, A., Brugada, R., Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant, <<SEIZURE>>, 2015; 25 (Gennaio): 65-67. [doi:10.1016/j.seizure.2015.01.003] [http://hdl.handle.net/10807/65925]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/65925
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