Abstract
The clinical and genetic findings of two X-linked lissencephaly with abnormal genitalia (XLAG) pedigrees with ARX mutations are reported from the University of Regensburg, Germany.
Highlights
MRI showed lissencephaly, thick cortex, small basal ganglia, subependymal cysts, and absent corpus callosum (ACC) and septum pellucidum
X-LINKED LISSENCEPHALY WITH ARX MUTATIONS, ABNORMAL GENITALIA, AND CORPUS CALLOSUM AGENESIS
The clinical and genetic findings of two X-linked lissencephaly with abnormal genitalia (XLAG) pedigrees with ARX mutations are reported from the University of Regensburg, Germany
Summary
MRI showed lissencephaly, thick cortex, small basal ganglia, subependymal cysts, and absent corpus callosum (ACC) and septum pellucidum. X-LINKED LISSENCEPHALY WITH ARX MUTATIONS, ABNORMAL GENITALIA, AND CORPUS CALLOSUM AGENESIS The clinical and genetic findings of two X-linked lissencephaly with abnormal genitalia (XLAG) pedigrees with ARX mutations are reported from the University of Regensburg, Germany. Case 1 index patient had multifocal clonic seizures at birth and later developed generalized tonic-clonic seizures refractory to treatment.
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