De novo SCN1A mutations in migrating partial seizures of infancy
Identifieur interne : 006181 ( Main/Exploration ); précédent : 006180; suivant : 006182De novo SCN1A mutations in migrating partial seizures of infancy
Auteurs : D. Carranza Rojo ; L. Hamiwka ; J. M. Mcmahon ; L. M. Dibbens ; T. Arsov ; A. Suls ; T. Stödberg ; K. Kelley ; E. Wirrell ; B. Appleton ; M. Mackay ; J. L. Freeman ; S. C. Yendle ; S. F. Berkovic ; T. Bienvenu ; P. De Jonghe ; D. R. Thorburn ; J. C. Mulley ; H. C. Mefford ; I. E. SchefferSource :
- Neurology [ 0028-3878 ] ; 2011.
Abstract
To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI).
Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies:
One patient had a de novo
Epilepsies associated with
Url:
DOI: 10.1212/WNL.0b013e318227046d
PubMed: 21753172
PubMed Central: 3140798
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">De novo <italic>SCN1A</italic> mutations in migrating partial seizures of infancy</title><author><name sortKey="Carranza Rojo, D" sort="Carranza Rojo, D" uniqKey="Carranza Rojo D" first="D." last="Carranza Rojo">D. Carranza Rojo</name></author><author><name sortKey="Hamiwka, L" sort="Hamiwka, L" uniqKey="Hamiwka L" first="L." last="Hamiwka">L. Hamiwka</name></author><author><name sortKey="Mcmahon, J M" sort="Mcmahon, J M" uniqKey="Mcmahon J" first="J. M." last="Mcmahon">J. M. Mcmahon</name></author><author><name sortKey="Dibbens, L M" sort="Dibbens, L M" uniqKey="Dibbens L" first="L. M." last="Dibbens">L. M. Dibbens</name></author><author><name sortKey="Arsov, T" sort="Arsov, T" uniqKey="Arsov T" first="T." last="Arsov">T. Arsov</name></author><author><name sortKey="Suls, A" sort="Suls, A" uniqKey="Suls A" first="A." last="Suls">A. Suls</name></author><author><name sortKey="Stodberg, T" sort="Stodberg, T" uniqKey="Stodberg T" first="T." last="Stödberg">T. Stödberg</name></author><author><name sortKey="Kelley, K" sort="Kelley, K" uniqKey="Kelley K" first="K." last="Kelley">K. Kelley</name></author><author><name sortKey="Wirrell, E" sort="Wirrell, E" uniqKey="Wirrell E" first="E." last="Wirrell">E. Wirrell</name></author><author><name sortKey="Appleton, B" sort="Appleton, B" uniqKey="Appleton B" first="B." last="Appleton">B. Appleton</name></author><author><name sortKey="Mackay, M" sort="Mackay, M" uniqKey="Mackay M" first="M." last="Mackay">M. Mackay</name></author><author><name sortKey="Freeman, J L" sort="Freeman, J L" uniqKey="Freeman J" first="J. L." last="Freeman">J. L. Freeman</name></author><author><name sortKey="Yendle, S C" sort="Yendle, S C" uniqKey="Yendle S" first="S. C." last="Yendle">S. C. Yendle</name></author><author><name sortKey="Berkovic, S F" sort="Berkovic, S F" uniqKey="Berkovic S" first="S. F." last="Berkovic">S. F. Berkovic</name></author><author><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T." last="Bienvenu">T. Bienvenu</name></author><author><name sortKey="De Jonghe, P" sort="De Jonghe, P" uniqKey="De Jonghe P" first="P." last="De Jonghe">P. De Jonghe</name></author><author><name sortKey="Thorburn, D R" sort="Thorburn, D R" uniqKey="Thorburn D" first="D. R." last="Thorburn">D. R. Thorburn</name></author><author><name sortKey="Mulley, J C" sort="Mulley, J C" uniqKey="Mulley J" first="J. C." last="Mulley">J. C. Mulley</name></author><author><name sortKey="Mefford, H C" sort="Mefford, H C" uniqKey="Mefford H" first="H. C." last="Mefford">H. C. Mefford</name></author><author><name sortKey="Scheffer, I E" sort="Scheffer, I E" uniqKey="Scheffer I" first="I. E." last="Scheffer">I. E. Scheffer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21753172</idno><idno type="pmc">3140798</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140798</idno><idno type="RBID">PMC:3140798</idno><idno type="doi">10.1212/WNL.0b013e318227046d</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001A35</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001A35</idno><idno type="wicri:Area/Pmc/Curation">001893</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001893</idno><idno type="wicri:Area/Pmc/Checkpoint">002348</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002348</idno><idno type="wicri:Area/Ncbi/Merge">000B18</idno><idno type="wicri:Area/Ncbi/Curation">000B18</idno><idno type="wicri:Area/Ncbi/Checkpoint">000B18</idno><idno type="wicri:Area/Main/Merge">006543</idno><idno type="wicri:Area/Main/Curation">006181</idno><idno type="wicri:Area/Main/Exploration">006181</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">De novo <italic>SCN1A</italic> mutations in migrating partial seizures of infancy</title><author><name sortKey="Carranza Rojo, D" sort="Carranza Rojo, D" uniqKey="Carranza Rojo D" first="D." last="Carranza Rojo">D. Carranza Rojo</name></author><author><name sortKey="Hamiwka, L" sort="Hamiwka, L" uniqKey="Hamiwka L" first="L." last="Hamiwka">L. Hamiwka</name></author><author><name sortKey="Mcmahon, J M" sort="Mcmahon, J M" uniqKey="Mcmahon J" first="J. M." last="Mcmahon">J. M. Mcmahon</name></author><author><name sortKey="Dibbens, L M" sort="Dibbens, L M" uniqKey="Dibbens L" first="L. M." last="Dibbens">L. M. Dibbens</name></author><author><name sortKey="Arsov, T" sort="Arsov, T" uniqKey="Arsov T" first="T." last="Arsov">T. Arsov</name></author><author><name sortKey="Suls, A" sort="Suls, A" uniqKey="Suls A" first="A." last="Suls">A. Suls</name></author><author><name sortKey="Stodberg, T" sort="Stodberg, T" uniqKey="Stodberg T" first="T." last="Stödberg">T. Stödberg</name></author><author><name sortKey="Kelley, K" sort="Kelley, K" uniqKey="Kelley K" first="K." last="Kelley">K. Kelley</name></author><author><name sortKey="Wirrell, E" sort="Wirrell, E" uniqKey="Wirrell E" first="E." last="Wirrell">E. Wirrell</name></author><author><name sortKey="Appleton, B" sort="Appleton, B" uniqKey="Appleton B" first="B." last="Appleton">B. Appleton</name></author><author><name sortKey="Mackay, M" sort="Mackay, M" uniqKey="Mackay M" first="M." last="Mackay">M. Mackay</name></author><author><name sortKey="Freeman, J L" sort="Freeman, J L" uniqKey="Freeman J" first="J. L." last="Freeman">J. L. Freeman</name></author><author><name sortKey="Yendle, S C" sort="Yendle, S C" uniqKey="Yendle S" first="S. C." last="Yendle">S. C. Yendle</name></author><author><name sortKey="Berkovic, S F" sort="Berkovic, S F" uniqKey="Berkovic S" first="S. F." last="Berkovic">S. F. Berkovic</name></author><author><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T." last="Bienvenu">T. Bienvenu</name></author><author><name sortKey="De Jonghe, P" sort="De Jonghe, P" uniqKey="De Jonghe P" first="P." last="De Jonghe">P. De Jonghe</name></author><author><name sortKey="Thorburn, D R" sort="Thorburn, D R" uniqKey="Thorburn D" first="D. R." last="Thorburn">D. R. Thorburn</name></author><author><name sortKey="Mulley, J C" sort="Mulley, J C" uniqKey="Mulley J" first="J. C." last="Mulley">J. C. Mulley</name></author><author><name sortKey="Mefford, H C" sort="Mefford, H C" uniqKey="Mefford H" first="H. C." last="Mefford">H. C. Mefford</name></author><author><name sortKey="Scheffer, I E" sort="Scheffer, I E" uniqKey="Scheffer I" first="I. E." last="Scheffer">I. E. Scheffer</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI).</p></sec><sec><title>Methods:</title><p>Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: <italic>SCN1A</italic>, <italic>CDKL5</italic>, <italic>STXBP1</italic>, <italic>PCDH19</italic>, and <italic>POLG</italic>. Microarray studies were performed to identify copy number variations.</p></sec><sec><title>Results:</title><p>One patient had a de novo <italic>SCN1A</italic> missense mutation p.R862G that affects the voltage sensor segment of <italic>SCN1A</italic>. A second patient had a de novo 11.06 Mb deletion of chromosome 2q24.2q31.1 encompassing more than 40 genes that included <italic>SCN1A</italic>. Screening of <italic>CDKL5</italic> (13/15 patients), <italic>STXBP1</italic> (13/15), <italic>PCDH19</italic> (9/11 females), and the 3 common European mutations of <italic>POLG</italic> (11/15) was negative. Pathogenic copy number variations were not detected in 11/12 cases.</p></sec><sec><title>Conclusion:</title><p>Epilepsies associated with <italic>SCN1A</italic> mutations range in severity from febrile seizures to severe epileptic encephalopathies including Dravet syndrome and severe infantile multifocal epilepsy. MPSI is now the most severe <italic>SCN1A</italic> phenotype described to date. While not a common cause of MPSI, <italic>SCN1A</italic> screening should now be considered in patients with this devastating epileptic encephalopathy.</p></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Appleton, B" sort="Appleton, B" uniqKey="Appleton B" first="B." last="Appleton">B. Appleton</name><name sortKey="Arsov, T" sort="Arsov, T" uniqKey="Arsov T" first="T." last="Arsov">T. Arsov</name><name sortKey="Berkovic, S F" sort="Berkovic, S F" uniqKey="Berkovic S" first="S. F." last="Berkovic">S. F. Berkovic</name><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T." last="Bienvenu">T. Bienvenu</name><name sortKey="Carranza Rojo, D" sort="Carranza Rojo, D" uniqKey="Carranza Rojo D" first="D." last="Carranza Rojo">D. Carranza Rojo</name><name sortKey="De Jonghe, P" sort="De Jonghe, P" uniqKey="De Jonghe P" first="P." last="De Jonghe">P. De Jonghe</name><name sortKey="Dibbens, L M" sort="Dibbens, L M" uniqKey="Dibbens L" first="L. M." last="Dibbens">L. M. Dibbens</name><name sortKey="Freeman, J L" sort="Freeman, J L" uniqKey="Freeman J" first="J. L." last="Freeman">J. L. Freeman</name><name sortKey="Hamiwka, L" sort="Hamiwka, L" uniqKey="Hamiwka L" first="L." last="Hamiwka">L. Hamiwka</name><name sortKey="Kelley, K" sort="Kelley, K" uniqKey="Kelley K" first="K." last="Kelley">K. Kelley</name><name sortKey="Mackay, M" sort="Mackay, M" uniqKey="Mackay M" first="M." last="Mackay">M. Mackay</name><name sortKey="Mcmahon, J M" sort="Mcmahon, J M" uniqKey="Mcmahon J" first="J. M." last="Mcmahon">J. M. Mcmahon</name><name sortKey="Mefford, H C" sort="Mefford, H C" uniqKey="Mefford H" first="H. C." last="Mefford">H. C. Mefford</name><name sortKey="Mulley, J C" sort="Mulley, J C" uniqKey="Mulley J" first="J. C." last="Mulley">J. C. Mulley</name><name sortKey="Scheffer, I E" sort="Scheffer, I E" uniqKey="Scheffer I" first="I. E." last="Scheffer">I. E. Scheffer</name><name sortKey="Stodberg, T" sort="Stodberg, T" uniqKey="Stodberg T" first="T." last="Stödberg">T. Stödberg</name><name sortKey="Suls, A" sort="Suls, A" uniqKey="Suls A" first="A." last="Suls">A. Suls</name><name sortKey="Thorburn, D R" sort="Thorburn, D R" uniqKey="Thorburn D" first="D. R." last="Thorburn">D. R. Thorburn</name><name sortKey="Wirrell, E" sort="Wirrell, E" uniqKey="Wirrell E" first="E." last="Wirrell">E. Wirrell</name><name sortKey="Yendle, S C" sort="Yendle, S C" uniqKey="Yendle S" first="S. C." last="Yendle">S. C. Yendle</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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