Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy
Summary: Purpose : To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor α4 subunit...
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crwiley:10.1111/j.1528-1157.2000.tb00205.x 2024-06-02T08:12:06+00:00 Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy Steinlein, Ortrud K. Stoodt, Jens Mulley, John Berkovic, Sam Scheffer, Ingrid E. Brodtkorb, Eylert 2000 http://dx.doi.org/10.1111/j.1528-1157.2000.tb00205.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1157.2000.tb00205.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1157.2000.tb00205.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Epilepsia volume 41, issue 5, page 529-535 ISSN 0013-9580 1528-1167 journal-article 2000 crwiley https://doi.org/10.1111/j.1528-1157.2000.tb00205.x 2024-05-03T10:54:18Z Summary: Purpose : To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). We also tested for evidence of a de novo mutation or founder effect by comparing haplotypes with the original Australian family where the Ser248Phe mutation was first described. Methods : Clinical details were obtained from 19 family members. Personal interviews and genetic analysis were carried out in 17. Parts of the coding region of CHRNA4 were sequenced, and two known polymorphisms (bp555/FokI, bp594/CfoI) were typed by restriction analysis. Results : Eleven individuals had ADNFLE. The haplotypes of the mutation‐carrying alleles of affected individuals from the Northern Norwegian and the Australian ADNFLE family are different. The phenotypic expressions are remarkably similar. Conclusions : The Ser248Phe mutation occurred independently in both families. Given the rarity of the disease, this suggests that not only the position of a mutation in the coding sequence but also the type of an amino acid exchange is important for the etiology of ADNFLE. The phenotypic similarity of these two families with different genetic backgrounds suggests that the Ser248Phe mutation largely determines the phenotype, with relatively little influence of other background genes. Article in Journal/Newspaper Northern Norway Wiley Online Library Norway Epilepsia 41 5 529 535 |
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Wiley Online Library |
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English |
description |
Summary: Purpose : To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). We also tested for evidence of a de novo mutation or founder effect by comparing haplotypes with the original Australian family where the Ser248Phe mutation was first described. Methods : Clinical details were obtained from 19 family members. Personal interviews and genetic analysis were carried out in 17. Parts of the coding region of CHRNA4 were sequenced, and two known polymorphisms (bp555/FokI, bp594/CfoI) were typed by restriction analysis. Results : Eleven individuals had ADNFLE. The haplotypes of the mutation‐carrying alleles of affected individuals from the Northern Norwegian and the Australian ADNFLE family are different. The phenotypic expressions are remarkably similar. Conclusions : The Ser248Phe mutation occurred independently in both families. Given the rarity of the disease, this suggests that not only the position of a mutation in the coding sequence but also the type of an amino acid exchange is important for the etiology of ADNFLE. The phenotypic similarity of these two families with different genetic backgrounds suggests that the Ser248Phe mutation largely determines the phenotype, with relatively little influence of other background genes. |
format |
Article in Journal/Newspaper |
author |
Steinlein, Ortrud K. Stoodt, Jens Mulley, John Berkovic, Sam Scheffer, Ingrid E. Brodtkorb, Eylert |
spellingShingle |
Steinlein, Ortrud K. Stoodt, Jens Mulley, John Berkovic, Sam Scheffer, Ingrid E. Brodtkorb, Eylert Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
author_facet |
Steinlein, Ortrud K. Stoodt, Jens Mulley, John Berkovic, Sam Scheffer, Ingrid E. Brodtkorb, Eylert |
author_sort |
Steinlein, Ortrud K. |
title |
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
title_short |
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
title_full |
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
title_fullStr |
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
title_full_unstemmed |
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy |
title_sort |
independent occurrence of the chrna4 ser248phe mutation in a norwegian family with nocturnal frontal lobe epilepsy |
publisher |
Wiley |
publishDate |
2000 |
url |
http://dx.doi.org/10.1111/j.1528-1157.2000.tb00205.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1157.2000.tb00205.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1157.2000.tb00205.x |
geographic |
Norway |
geographic_facet |
Norway |
genre |
Northern Norway |
genre_facet |
Northern Norway |
op_source |
Epilepsia volume 41, issue 5, page 529-535 ISSN 0013-9580 1528-1167 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1528-1157.2000.tb00205.x |
container_title |
Epilepsia |
container_volume |
41 |
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5 |
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529 |
op_container_end_page |
535 |
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1800758431870615552 |