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

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Summary

Introduction

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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