Genetics of Familial Infantile Convulsions

J Gordon Millichap

doi:10.15844/pedneurbriefs-11-11-6

Abstract

Four families from northwestern France with autosomal dominant benign infantile convulsions and paroxysmal choreoathetosis were studied genetically by linkage analysis at the Wellcome Trust Centre for Human Genetics, University of Oxford, UK, and at Genetic Clinics in Amiens, France.

Highlights

LEARNING DISABILITY SUBTYPES IN NEUROFIBROMATOSIS 1 An analysis of neuropsychological data for 72 children, aged 6 to 18 years, with neurofibromatosis 1 (NF-1) and academic deficiencies is reported from the University of Texas MD Anderson Cancer Center, Houston, TX
The University of Texas study group (Moore et al, 1996) found location important, unidentified bright objects (UBOs) hyperintensities in the thalamus correlated with a lowered IQ, whereas the Johns Hopkins group (Denckla et al, 1996) found the number of locations occupied by UBOs accounted for the lowering of IQ
This study provides genetic evidence of an epileptic basis for paroxysmal choreoathetosis

Summary

Introduction

LEARNING DISABILITY SUBTYPES IN NEUROFIBROMATOSIS 1 An analysis of neuropsychological data for 72 children, aged 6 to 18 years, with neurofibromatosis 1 (NF-1) and academic deficiencies is reported from the University of Texas MD Anderson Cancer Center, Houston, TX. The University of Texas study group (Moore et al, 1996) found location important, UBO hyperintensities in the thalamus correlated with a lowered IQ, whereas the Johns Hopkins group (Denckla et al, 1996) found the number of locations occupied by UBOs accounted for the lowering of IQ, GENETICS OF FAMILIAL INFANTILE CONVULSIONS Four families from northwestern France with autosomal dominant benign infantile convulsions and paroxysmal choreoathetosis were studied genetically by linkage analysis at the Wellcome Trust Centre for Human Genetics, University of Oxford, UK, and at Genetic Clinics in Amiens, France.

Results

Conclusion