Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures☆
Identifieur interne : 003759 ( Main/Exploration ); précédent : 003758; suivant : 003760Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures☆
Auteurs : Franchette T. Pascual [États-Unis] ; Klaas J. Wierenga [États-Unis] ; Yu-Tze Ng [États-Unis]Source :
- Epilepsy & Behavior Case Reports [ 2213-3232 ] ; 2013.
Abstract
Benign familial neonatal seizures (BFNS) is an autosomal dominant disorder associated with heterozygous mutations of either the
Url:
DOI: 10.1016/j.ebcr.2013.01.004
PubMed: 25667822
PubMed Central: 4150641
Affiliations:
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and <italic>CHRNA4</italic>
may cause a different disorder from benign familial neonatal seizures<sup><xref ref-type="fn" rid="d32e29">☆</xref>
</sup>
</title>
<author><name sortKey="Pascual, Franchette T" sort="Pascual, Franchette T" uniqKey="Pascual F" first="Franchette T." last="Pascual">Franchette T. Pascual</name>
<affiliation wicri:level="1"><nlm:aff id="af0005">Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA</nlm:aff>
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<wicri:regionArea>Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK</wicri:regionArea>
<wicri:noRegion>OK</wicri:noRegion>
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</author>
<author><name sortKey="Wierenga, Klaas J" sort="Wierenga, Klaas J" uniqKey="Wierenga K" first="Klaas J." last="Wierenga">Klaas J. Wierenga</name>
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<author><name sortKey="Ng, Yu Tze" sort="Ng, Yu Tze" uniqKey="Ng Y" first="Yu-Tze" last="Ng">Yu-Tze Ng</name>
<affiliation wicri:level="1"><nlm:aff id="af0005">Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA</nlm:aff>
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<wicri:regionArea>Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Contiguous deletion of <italic>KCNQ2</italic>
and <italic>CHRNA4</italic>
may cause a different disorder from benign familial neonatal seizures<sup><xref ref-type="fn" rid="d32e29">☆</xref>
</sup>
</title>
<author><name sortKey="Pascual, Franchette T" sort="Pascual, Franchette T" uniqKey="Pascual F" first="Franchette T." last="Pascual">Franchette T. Pascual</name>
<affiliation wicri:level="1"><nlm:aff id="af0005">Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK</wicri:regionArea>
<wicri:noRegion>OK</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wierenga, Klaas J" sort="Wierenga, Klaas J" uniqKey="Wierenga K" first="Klaas J." last="Wierenga">Klaas J. Wierenga</name>
<affiliation wicri:level="1"><nlm:aff id="af0010">Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK</wicri:regionArea>
<wicri:noRegion>OK</wicri:noRegion>
</affiliation>
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<author><name sortKey="Ng, Yu Tze" sort="Ng, Yu Tze" uniqKey="Ng Y" first="Yu-Tze" last="Ng">Yu-Tze Ng</name>
<affiliation wicri:level="1"><nlm:aff id="af0005">Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK</wicri:regionArea>
<wicri:noRegion>OK</wicri:noRegion>
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<series><title level="j">Epilepsy & Behavior Case Reports</title>
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<imprint><date when="2013">2013</date>
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<front><div type="abstract" xml:lang="en"><p>Benign familial neonatal seizures (BFNS) is an autosomal dominant disorder associated with heterozygous mutations of either the <italic>KCNQ2</italic>
or <italic>KCNQ3</italic>
gene. Most cases have mutations of the <italic>KCNQ2</italic>
gene. A handful of cases with <italic>KCNQ2</italic>
and <italic>CHRNA4</italic>
deletions have been identified with different phenotypic presentations. Only two cases presented with typical BFNS features. Benign familial neonatal seizures is associated with normal exam and work-up, and seizure remission is seen in the first month of life. We report three unrelated individuals with <italic>KCNQ2</italic>
and <italic>CHRNA4</italic>
deletions, presenting with neonatal seizures and developmental delay. Their seizures started within one week after birth; all required antiepileptic drugs. Each had normal brain magnetic resonance imaging and at least two electroencephalograms with either normal or abnormal findings. All were developmentally delayed. None presented with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype associated with <italic>CHRNA4</italic>
mutation. This study supports reports of <italic>KCNQ2</italic>
and <italic>CHRNA4</italic>
deletions associated with phenotypes different from typical BFNS.</p>
</div>
</front>
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<name sortKey="Ng, Yu Tze" sort="Ng, Yu Tze" uniqKey="Ng Y" first="Yu-Tze" last="Ng">Yu-Tze Ng</name>
<name sortKey="Wierenga, Klaas J" sort="Wierenga, Klaas J" uniqKey="Wierenga K" first="Klaas J." last="Wierenga">Klaas J. Wierenga</name>
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