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 contribution||A new doublecortin gene mutation in a case of resistant partial epilepsy and normal low resolution brain MRI scan|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2004|
ASJC Scopus subject areas
- Clinical Neurology