COPY NUMBER VARIATIONS IN THE ETIOLOGY OF EPILEPSY

Giovanni Corsello, Ettore Piro, Manuela Martines, Valeria Consiglio

Risultato della ricerca: Articlepeer review

2 Citazioni (Scopus)

Abstract

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy.In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transport.The possibility to identify new rare CNVs allow a greater understanding of the mechanisms of epilepsy and other neurodevelopmental disorders.
Lingua originaleEnglish
pagine (da-a)317-320
Numero di pagine4
RivistaActa Medica Mediterranea
Volume29
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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