Una nuova mutazione del gene "doublecortin" in un caso di epilessia parziale farmacoresistente con normali rilievi morfologici alla RM encefalica a bassa risoluzione

Translated title of the contribution: A new doublecortin gene mutation in a case of resistant partial epilepsy and normal low resolution brain MRI scan

P. Banfi, A. Pichiecchio, C. Uggetti, F. Moro, R. Guerrini, G. Bono

Research output: Contribution to journalArticle

Abstract

Brain malformations due to a neuronal migration defect have been associated with mutations of the X-linked doublecortin (DCX) gene, with a large phenotypic and morphological heterogeneity from subcortical band heteropia (SBH) in heterozygous females to diffuse lyssencephaly in hemizigous males. We describe a woman with resistant partial epilepsy, initially diagnosed criptogenetic in whom high resolution brain MRI suggested a genetic origin, as confirmed by sequence analysis of the DCX gene.

Translated title of the contributionA new doublecortin gene mutation in a case of resistant partial epilepsy and normal low resolution brain MRI scan
Original languageItalian
Pages (from-to)305-306
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number125-126
Publication statusPublished - Jul 2004

ASJC Scopus subject areas

  • Clinical Neurology

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