Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acqui...

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Bibliographic Details
Main Authors: Mônica Jaques Spinosa, Paulo Breno Noronha Liberalesso, Simone Carreiro Vieira, Alaídes Susana Fojo Olmos, Alfredo Löhr Júnior
Format: Article
Language:English
Published: Thieme Revinter Publicações 2006-12-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
corpo caloso
genitália ambígua
epilepsia
gene ARX
corpus callosum
ambiguous genitalia
epilepsy
ARX gene
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000600027
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