Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Research Abstract Details 

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Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Abstract Text:

W Whitehouse,U Diebold,M Rees,K Parker,H Doose,R M Gardiner,W Whitehouse,U Diebold,M Rees,K Parker,H Doose,R M Gardiner,

Benign partial epilepsy with centrotemporal sharp waves (benign rolandic epilepsy, BRE) is a common form of idiopathic, localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as an autosomal dominant trait in families with probands with BRE and acts as a neurobiological marker for the increased risk of developing BRE, other benign partial epilepsies of childhood, and other developmental disorders in these families. One of the genes for idiopathic generalised epilepsy (IGE), designated EJM1, has been mapped in families with probands with juvenile myoclonic epilepsy, by linkage to the HLA region on chromosome 6. As BRE and IGE are benign, idiopathic, age-dependent epilepsies, EJM1 is a candidate locus for the fsw underlying BRE and related disorders. Genetic linkage analysis was undertaken in 11 families with probands with BRE and one or more first degree relatives with fsw, with or without BRE, using a polymorphic DNA marker within the HLA region. Apparently unaffected individuals were classed as affection status unknown. Assuming autosomal dominant inheritance with a penetrance of 0.9 gave a lod score of -2.3 at zero recombination, excluding the candidate gene region around HLA. These observations exclude an important candidate gene for this common disorder, and suggest a fundamental molecular and genetic distinction between the benign partial epilepsies of childhood and the idiopathic generalised epilepsies.

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Publishing Authors By Initials

W Whitehouse,U Diebold,M Rees,K Parker,H Doose,RM Gardiner,W Whitehouse,U Diebold,M Rees,K Parker,H Doose,RM Gardiner,

For similar genetic phenomena: phenotype research abstracts see: genetic phenomena: phenotype research

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Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neuropediatrics

VOLUME: 24

Page Numbers: 208-10

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Aug

YEAR: 1993

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Keywords Mesh Terms:

KEYWORDS: Phenotype

MESH TERMS: genetics

Chemical & Substance for Abstract: Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Information

Substance Name: HLA-DQA1

Registry Number: 0

Grant and Affiliation Information for Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.

AFFILIATION: Department of Paediatrics, University College London Medical School, UK.

Country: GERMANY

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MEDLINETA: Neuropediatrics

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