AustralieFrV1, PascalFrancis, Curation, bibRecord, 002682

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

Identifieur interne : 002682 ( PascalFrancis/Curation ); précédent : 002681; suivant : 002683

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.

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A02	`01`			`@0 EPIRE8`
A03		`1`		`@0 Epilepsy res.`
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A08	`01`	`1`	`ENG`	`@1 Absence of mutations in the LGL1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy`
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A11	`05`	`1`		`@1 COUARCH (Philippe)`
A11	`06`	`1`		`@1 BERKOVIC (Samuel F.)`
A11	`07`	`1`		`@1 MCMAHON (Jacinta M.)`
A11	`08`	`1`		`@1 BAJAJ (Nandita)`
A11	`09`	`1`		`@1 MOTA-VIEIRA (Luisa)`
A11	`10`	`1`		`@1 MOTA (Rui)`
A11	`11`	`1`		`@1 TROUILLARD (Oriane)`
A11	`12`	`1`		`@1 DEPIENNE (Christel)`
A11	`13`	`1`		`@1 BAULAC (Michel)`
A11	`14`	`1`		`@1 LEGUERN (Eric)`
A11	`15`	`1`		`@1 BAULAC (Stephanie)`
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A14	`03`			`@1 Epileptology unit, AP-HP, Hopital de la Pitié -Salpêtrière @2 Paris @3 FRA @Z 2 aut. @Z 13 aut.`
A14	`04`			`@1 Epilepsy Research Centre, University of Melbourne, Austin Health @3 AUS @Z 3 aut. @Z 6 aut. @Z 7 aut.`
A14	`05`			`@1 Department of Paediatrics, University of Melbourne, Royal Children's Hospital @3 AUS @Z 3 aut.`
A14	`06`			`@1 Department of Neurology, University Hospital and Medical School of Geneva @2 Geneva @3 CHE @Z 4 aut.`
A14	`07`			`@1 Epilepsy clinic, Siddharth Hospital Ltd @2 Kathmandu @3 NPL @Z 8 aut.`
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C01	`01`		`ENG`	@0 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.
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C02	`02`	`X`		`@0 002B02B06`
C03	`01`	`X`	`FRE`	`@0 Epilepsie @5 01`
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C03	`02`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`03`	`X`	`FRE`	`@0 Récepteur biologique @5 10`
C03	`03`	`X`	`ENG`	`@0 Biological receptor @5 10`
C03	`03`	`X`	`SPA`	`@0 Receptor biológico @5 10`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
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C07	`02`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
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C07	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 39`
N21				`@1 267`
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Pascal:07-0413971

Le document en format XML

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<author><name sortKey="Couarch, Philippe" sort="Couarch, Philippe" uniqKey="Couarch P" first="Philippe" last="Couarch">Philippe Couarch</name>
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<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
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<author><name sortKey="Baulac, Michel" sort="Baulac, Michel" uniqKey="Baulac M" first="Michel" last="Baulac">Michel Baulac</name>
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<author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name>
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<author><name sortKey="Baulac, Stephanie" sort="Baulac, Stephanie" uniqKey="Baulac S" first="Stephanie" last="Baulac">Stephanie Baulac</name>
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</titleStmt>
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<idno type="inist">07-0413971</idno>
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<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="1"><inist:fA14 i1="01"><s1>INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Salpetriere</s1>
<s2>Paris</s2>
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<country>France</country>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université Pierre et Marie Curie, Faculté de Medecine</s1>
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<author><name sortKey="Gourfinkel An, Isabelle" sort="Gourfinkel An, Isabelle" uniqKey="Gourfinkel An I" first="Isabelle" last="Gourfinkel An">Isabelle Gourfinkel An</name>
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<author><name sortKey="Baulac, Stephanie" sort="Baulac, Stephanie" uniqKey="Baulac S" first="Stephanie" last="Baulac">Stephanie Baulac</name>
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<series><title level="j" type="main">Epilepsy research</title>
<title level="j" type="abbreviated">Epilepsy res.</title>
<idno type="ISSN">0920-1211</idno>
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<seriesStmt><title level="j" type="main">Epilepsy research</title>
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<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>
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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

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