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Genetics of Epilepsy and Relevance to Current Practice

  • Epilepsy (CW Bazil, Section Editor)
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Abstract

Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.

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Authors and Affiliations

  1. Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura 3, 40139, Bologna, Italy

    Roberto Michelucci, Elena Pasini, Patrizia Riguzzi & Lilia Volpi

  2. CNR Institute of Neurosciences, Padova, Italy

    Emanuela Dazzo & Carlo Nobile

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  1. Roberto Michelucci
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  2. Elena Pasini
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  3. Patrizia Riguzzi
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  4. Lilia Volpi
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  5. Emanuela Dazzo
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  6. Carlo Nobile
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Correspondence to Roberto Michelucci.

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Michelucci, R., Pasini, E., Riguzzi, P. et al. Genetics of Epilepsy and Relevance to Current Practice. Curr Neurol Neurosci Rep 12, 445–455 (2012). https://doi.org/10.1007/s11910-012-0281-8

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