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Chromosome imbalances associated with epilepsy
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| Zeitschriftentitel: | American Journal of Medical Genetics |
|---|---|
| Personen und Körperschaften: | , |
| In: | American Journal of Medical Genetics, 106, 2001, 2, S. 119-124 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Schinzel, Albert Niedrist, Dunja Schinzel, Albert Niedrist, Dunja |
|---|---|
| author |
Schinzel, Albert Niedrist, Dunja |
| spellingShingle |
Schinzel, Albert Niedrist, Dunja American Journal of Medical Genetics Chromosome imbalances associated with epilepsy Genetics (clinical) |
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schinzel, albert |
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Schinzel, Albert Niedrist, Dunja 0148-7299 1096-8628 Wiley Genetics (clinical) http://dx.doi.org/10.1002/ajmg.1576 <jats:title>Abstract</jats:title><jats:p>Epilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in the <jats:italic>UBE3A</jats:italic> gene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.</jats:p> Chromosome imbalances associated with epilepsy American Journal of Medical Genetics |
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Chromosome imbalances associated with epilepsy |
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Chromosome imbalances associated with epilepsy |
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Chromosome imbalances associated with epilepsy |
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Chromosome imbalances associated with epilepsy |
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Chromosome imbalances associated with epilepsy |
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Chromosome imbalances associated with epilepsy |
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chromosome imbalances associated with epilepsy |
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Genetics (clinical) |
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http://dx.doi.org/10.1002/ajmg.1576 |
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2001 |
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119-124 |
| description |
<jats:title>Abstract</jats:title><jats:p>Epilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in the <jats:italic>UBE3A</jats:italic> gene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.</jats:p> |
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| author | Schinzel, Albert, Niedrist, Dunja |
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| description | <jats:title>Abstract</jats:title><jats:p>Epilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in the <jats:italic>UBE3A</jats:italic> gene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.</jats:p> |
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| spelling | Schinzel, Albert Niedrist, Dunja 0148-7299 1096-8628 Wiley Genetics (clinical) http://dx.doi.org/10.1002/ajmg.1576 <jats:title>Abstract</jats:title><jats:p>Epilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in the <jats:italic>UBE3A</jats:italic> gene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.</jats:p> Chromosome imbalances associated with epilepsy American Journal of Medical Genetics |
| spellingShingle | Schinzel, Albert, Niedrist, Dunja, American Journal of Medical Genetics, Chromosome imbalances associated with epilepsy, Genetics (clinical) |
| title | Chromosome imbalances associated with epilepsy |
| title_full | Chromosome imbalances associated with epilepsy |
| title_fullStr | Chromosome imbalances associated with epilepsy |
| title_full_unstemmed | Chromosome imbalances associated with epilepsy |
| title_short | Chromosome imbalances associated with epilepsy |
| title_sort | chromosome imbalances associated with epilepsy |
| title_unstemmed | Chromosome imbalances associated with epilepsy |
| topic | Genetics (clinical) |
| url | http://dx.doi.org/10.1002/ajmg.1576 |