AustralieFrV1, Main, Exploration, bibRecord, 009749

Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Identifieur interne : 009749 ( Main/Exploration ); précédent : 009748; suivant : 009750

Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Auteurs : Elodie Chabrol [France] ; Isabelle Gourfinkel An [France] ; Ingrid E. Scheffer [Australie] ; Fabienne Picard [Suisse] ; Philippe Couarch [France] ; Samuel F. Berkovic [Australie] ; Jacinta M. Mcmahon [Australie] ; Nandita Bajaj [Népal] ; Luisa Mota-Vieira [Portugal] ; Rui Mota [Portugal] ; Oriane Trouillard [France] ; Christel Depienne [France] ; Michel Baulac [France] ; Eric Leguern [France] ; Stephanie Baulac [France]

Source :

Epilepsy research [ 0920-1211 ] ; 2007.

RBID : Pascal:07-0413971

Descripteurs français

Pascal (Inist)
- Epilepsie, Mutation, Récepteur biologique.

English descriptors

KwdEn :
- Biological receptor, Epilepsy, Mutation.

Abstract

Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that ADLTE is a genetically heterogeneous disorder. Recently, it was shown that LGI1 is released by neurons and becomes part of a protein complex at the neuronal postsynaptic density where it is implicated in the regulation of glutamate-AMPA neurotransmission. Within this complex, LGI1 binds selectively to a neuronal specific membrane protein, ADAM22 (a disintegrin and metalloprotease). Since ADAM22 serves as a neuronal receptor for LGI1, the ADAM22 gene was considered a good candidate gene for ADLTE. We have therefore sequenced all coding exons and exon-intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 003A06
to stream PascalFrancis, to step Curation: 002682
to stream PascalFrancis, to step Checkpoint: 003A84
to stream Main, to step Merge: 00A196
to stream Main, to step Curation: 009749

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy</title>
<author><name sortKey="Chabrol, Elodie" sort="Chabrol, Elodie" uniqKey="Chabrol E" first="Elodie" last="Chabrol">Elodie Chabrol</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Epileptology unit, AP-HP, Hopital de la Pitié -Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Picard, Fabienne" sort="Picard, Fabienne" uniqKey="Picard F" first="Fabienne" last="Picard">Fabienne Picard</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, University Hospital and Medical School of Geneva</s1>
<s2>Geneva</s2>
<s3>CHE</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Geneva</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Couarch, Philippe" sort="Couarch, Philippe" uniqKey="Couarch P" first="Philippe" last="Couarch">Philippe Couarch</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</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, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Epilepsy Research Centre, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bajaj, Nandita" sort="Bajaj, Nandita" uniqKey="Bajaj N" first="Nandita" last="Bajaj">Nandita Bajaj</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Epilepsy clinic, Siddharth Hospital Ltd</s1>
<s2>Kathmandu</s2>
<s3>NPL</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Népal</country>
<wicri:noRegion>Kathmandu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mota Vieira, Luisa" sort="Mota Vieira, Luisa" uniqKey="Mota Vieira L" first="Luisa" last="Mota-Vieira">Luisa Mota-Vieira</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hospital do Divino Espirito Santo</s1>
<s2>Acores</s2>
<s3>PRT</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Portugal</country>
<wicri:noRegion>Hospital do Divino Espirito Santo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mota, Rui" sort="Mota, Rui" uniqKey="Mota R" first="Rui" last="Mota">Rui Mota</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hospital do Divino Espirito Santo</s1>
<s2>Acores</s2>
<s3>PRT</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Portugal</country>
<wicri:noRegion>Hospital do Divino Espirito Santo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baulac, Michel" sort="Baulac, Michel" uniqKey="Baulac M" first="Michel" last="Baulac">Michel Baulac</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Epileptology unit, AP-HP, Hopital de la Pitié -Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">07-0413971</idno>
<date when="2007">2007</date>
<idno type="stanalyst">PASCAL 07-0413971 INIST</idno>
<idno type="RBID">Pascal:07-0413971</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">003A06</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002682</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">003A84</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003A84</idno>
<idno type="wicri:doubleKey">0920-1211:2007:Chabrol E:absence:of:mutations</idno>
<idno type="wicri:Area/Main/Merge">00A196</idno>
<idno type="wicri:Area/Main/Curation">009749</idno>
<idno type="wicri:Area/Main/Exploration">009749</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy</title>
<author><name sortKey="Chabrol, Elodie" sort="Chabrol, Elodie" uniqKey="Chabrol E" first="Elodie" last="Chabrol">Elodie Chabrol</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Epileptology unit, AP-HP, Hopital de la Pitié -Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Picard, Fabienne" sort="Picard, Fabienne" uniqKey="Picard F" first="Fabienne" last="Picard">Fabienne Picard</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, University Hospital and Medical School of Geneva</s1>
<s2>Geneva</s2>
<s3>CHE</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Geneva</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Couarch, Philippe" sort="Couarch, Philippe" uniqKey="Couarch P" first="Philippe" last="Couarch">Philippe Couarch</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</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, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Epilepsy Research Centre, University of Melbourne, Austin Health</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Epilepsy Research Centre, University of Melbourne, Austin Health</wicri:noRegion>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bajaj, Nandita" sort="Bajaj, Nandita" uniqKey="Bajaj N" first="Nandita" last="Bajaj">Nandita Bajaj</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Epilepsy clinic, Siddharth Hospital Ltd</s1>
<s2>Kathmandu</s2>
<s3>NPL</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Népal</country>
<wicri:noRegion>Kathmandu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mota Vieira, Luisa" sort="Mota Vieira, Luisa" uniqKey="Mota Vieira L" first="Luisa" last="Mota-Vieira">Luisa Mota-Vieira</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hospital do Divino Espirito Santo</s1>
<s2>Acores</s2>
<s3>PRT</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Portugal</country>
<wicri:noRegion>Hospital do Divino Espirito Santo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mota, Rui" sort="Mota, Rui" uniqKey="Mota R" first="Rui" last="Mota">Rui Mota</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hospital do Divino Espirito Santo</s1>
<s2>Acores</s2>
<s3>PRT</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Portugal</country>
<wicri:noRegion>Hospital do Divino Espirito Santo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baulac, Michel" sort="Baulac, Michel" uniqKey="Baulac M" first="Michel" last="Baulac">Michel Baulac</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Epileptology unit, AP-HP, Hopital de la Pitié -Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>AP-Hf Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</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="2007">2007</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>Biological receptor</term>
<term>Epilepsy</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Epilepsie</term>
<term>Mutation</term>
<term>Récepteur biologique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that ADLTE is a genetically heterogeneous disorder. Recently, it was shown that LGI1 is released by neurons and becomes part of a protein complex at the neuronal postsynaptic density where it is implicated in the regulation of glutamate-AMPA neurotransmission. Within this complex, LGI1 binds selectively to a neuronal specific membrane protein, ADAM22 (a disintegrin and metalloprotease). Since ADAM22 serves as a neuronal receptor for LGI1, the ADAM22 gene was considered a good candidate gene for ADLTE. We have therefore sequenced all coding exons and exon-intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Népal</li>
<li>Portugal</li>
<li>Suisse</li>
</country>
<region><li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Melbourne</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
<li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Chabrol, Elodie" sort="Chabrol, Elodie" uniqKey="Chabrol E" first="Elodie" last="Chabrol">Elodie Chabrol</name>
</region>
<name sortKey="Baulac, Michel" sort="Baulac, Michel" uniqKey="Baulac M" first="Michel" last="Baulac">Michel Baulac</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="Couarch, Philippe" sort="Couarch, Philippe" uniqKey="Couarch P" first="Philippe" last="Couarch">Philippe Couarch</name>
<name sortKey="Couarch, Philippe" sort="Couarch, Philippe" uniqKey="Couarch P" first="Philippe" last="Couarch">Philippe Couarch</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</name>
<name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</name>
<name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</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>
<name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
<name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
</region>
<name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Picard, Fabienne" sort="Picard, Fabienne" uniqKey="Picard F" first="Fabienne" last="Picard">Fabienne Picard</name>
</noRegion>
</country>
<country name="Népal"><noRegion><name sortKey="Bajaj, Nandita" sort="Bajaj, Nandita" uniqKey="Bajaj N" first="Nandita" last="Bajaj">Nandita Bajaj</name>
</noRegion>
</country>
<country name="Portugal"><noRegion><name sortKey="Mota Vieira, Luisa" sort="Mota Vieira, Luisa" uniqKey="Mota Vieira L" first="Luisa" last="Mota-Vieira">Luisa Mota-Vieira</name>
</noRegion>
<name sortKey="Mota, Rui" sort="Mota, Rui" uniqKey="Mota R" first="Rui" last="Mota">Rui Mota</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009749 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009749 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:07-0413971
   |texte=   Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri