AustralieFrV1, Main, Exploration, bibRecord, 004C80

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

Identifieur interne : 004C80 ( Main/Exploration ); précédent : 004C79; suivant : 004C81

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

Auteurs : Lynette G. Sadleir [Nouvelle-Zélande] ; Dahbia Agher [France] ; Elodie Chabrol [France] ; Léa Elkouby [France, Australie] ; Eric Leguern [France] ; Sarah J. Paterson [Nouvelle-Zélande] ; Rosie Harty [Nouvelle-Zélande] ; Susannah T. Bellows [Australie] ; Samuel F. Berkovic [Australie] ; Ingrid E. Scheffer [Australie] ; Stephanie Baulac [France]

Source :

Epilepsy research [ 0920-1211 ] ; 2013.

RBID : Pascal:14-0029484

Descripteurs français

Pascal (Inist)
- Epilepsie temporale, Convulsion, Mutation.

English descriptors

KwdEn :
- Convulsion, Mutation, Temporal lobe epilepsy.

Abstract

Mutations in LGl1 are found in 50% of families with autosomal dominant epilepsy with auditory features (ADEAF). In ADEAF, family members have predominantly lateral temporal lobe seizures but mesial temporal lobe semiology may also occur. We report here three families with novel LGl1 mutations (p.lle82Thr, p.Glu225*, c.432-2_436del). Seven affected individuals reported an auditory aura and one a visual aura. A 10-year old boy described a cephalic aura followed by an unpleasant taste and oral automatisms without auditory, visual or psychic features.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000604
to stream PascalFrancis, to step Curation: 005853
to stream PascalFrancis, to step Checkpoint: 000648
to stream Main, to step Merge: 004E22
to stream Main, to step Curation: 004C80

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations</title>
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</affiliation>
</author>
<author><name sortKey="Bellows, Susannah T" sort="Bellows, Susannah T" uniqKey="Bellows S" first="Susannah T." last="Bellows">Susannah T. Bellows</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Florey Neuroscience Institutes, University of Melbourne</s1>
<s2>Victoria</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Baulac, Stephanie" sort="Baulac, Stephanie" uniqKey="Baulac S" first="Stephanie" last="Baulac">Stephanie Baulac</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Inserm U975, Institut du Cerveau et de la Moelle épinière (ICM), Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris 75013</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Université Pierre & Marie Curie-Paris 6 (UPMC)</s1>
<s2>Paris 75013</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Epilepsy research</title>
<title level="j" type="abbreviated">Epilepsy res.</title>
<idno type="ISSN">0920-1211</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Epilepsy research</title>
<title level="j" type="abbreviated">Epilepsy res.</title>
<idno type="ISSN">0920-1211</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Convulsion</term>
<term>Mutation</term>
<term>Temporal lobe epilepsy</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Epilepsie temporale</term>
<term>Convulsion</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in LGl1 are found in 50% of families with autosomal dominant epilepsy with auditory features (ADEAF). In ADEAF, family members have predominantly lateral temporal lobe seizures but mesial temporal lobe semiology may also occur. We report here three families with novel LGl1 mutations (p.lle82Thr, p.Glu225*, c.432-2_436del). Seven affected individuals reported an auditory aura and one a visual aura. A 10-year old boy described a cephalic aura followed by an unpleasant taste and oral automatisms without auditory, visual or psychic features.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Nouvelle-Zélande</li>
</country>
<region><li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Melbourne</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Nouvelle-Zélande"><noRegion><name sortKey="Sadleir, Lynette G" sort="Sadleir, Lynette G" uniqKey="Sadleir L" first="Lynette G." last="Sadleir">Lynette G. Sadleir</name>
</noRegion>
<name sortKey="Harty, Rosie" sort="Harty, Rosie" uniqKey="Harty R" first="Rosie" last="Harty">Rosie Harty</name>
<name sortKey="Paterson, Sarah J" sort="Paterson, Sarah J" uniqKey="Paterson S" first="Sarah J." last="Paterson">Sarah J. Paterson</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Agher, Dahbia" sort="Agher, Dahbia" uniqKey="Agher D" first="Dahbia" last="Agher">Dahbia Agher</name>
</region>
<name sortKey="Agher, Dahbia" sort="Agher, Dahbia" uniqKey="Agher D" first="Dahbia" last="Agher">Dahbia Agher</name>
<name sortKey="Baulac, Stephanie" sort="Baulac, Stephanie" uniqKey="Baulac S" first="Stephanie" last="Baulac">Stephanie Baulac</name>
<name sortKey="Baulac, Stephanie" sort="Baulac, Stephanie" uniqKey="Baulac S" first="Stephanie" last="Baulac">Stephanie Baulac</name>
<name sortKey="Chabrol, Elodie" sort="Chabrol, Elodie" uniqKey="Chabrol E" first="Elodie" last="Chabrol">Elodie Chabrol</name>
<name sortKey="Chabrol, Elodie" sort="Chabrol, Elodie" uniqKey="Chabrol E" first="Elodie" last="Chabrol">Elodie Chabrol</name>
<name sortKey="Elkouby, Lea" sort="Elkouby, Lea" uniqKey="Elkouby L" first="Léa" last="Elkouby">Léa Elkouby</name>
<name sortKey="Elkouby, Lea" sort="Elkouby, Lea" uniqKey="Elkouby L" first="Léa" last="Elkouby">Léa Elkouby</name>
<name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
<name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Elkouby, Lea" sort="Elkouby, Lea" uniqKey="Elkouby L" first="Léa" last="Elkouby">Léa Elkouby</name>
</region>
<name sortKey="Bellows, Susannah T" sort="Bellows, Susannah T" uniqKey="Bellows S" first="Susannah T." last="Bellows">Susannah T. Bellows</name>
<name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
</country>
</tree>
</affiliations>
</record>

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Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

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