MovDisordV3, Main, Merge, bibRecord, 003014

Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment

Identifieur interne : 003014 ( Main/Merge ); précédent : 003013; suivant : 003015

Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment

Auteurs : Edoardo Ferlazzo [Italie] ; Domenico Italiano [Italie] ; Isabelle An [France] ; Tiziana Calarese [France, Italie] ; Virginie Laguitton [France] ; Placido Bramanti [Italie] ; Paolo Di Bella [Italie] ; Pierre Genton [France]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0257366

Descripteurs français

Pascal (Inist)
- Epilepsie myoclonique familiale d'Unverricht-Lundborg, Trouble cognitif, Convulsion, Pathologie du système nerveux.

English descriptors

KwdEn :
- Cognitive disorder, Convulsion, Nervous system diseases, Progressive myoclonus epilepsy.

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

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

to stream PascalFrancis, to step Corpus: 000E63
to stream PascalFrancis, to step Curation: 001E56
to stream PascalFrancis, to step Checkpoint: 000F17

Links to Exploration step

Pascal:09-0257366

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment</title>
<author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Physiopathologie et pathogenèse des Maladies Neurodégénératives du Système Nerveux Central INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Division of Child Neurology and Psychiatry, University of Messina</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Messina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">09-0257366</idno>
<date when="2009">2009</date>
<idno type="stanalyst">PASCAL 09-0257366 INIST</idno>
<idno type="RBID">Pascal:09-0257366</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000E63</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001E56</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000F17</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Ferlazzo E:description:of:a</idno>
<idno type="wicri:Area/Main/Merge">003014</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment</title>
<author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Physiopathologie et pathogenèse des Maladies Neurodégénératives du Système Nerveux Central INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Division of Child Neurology and Psychiatry, University of Messina</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Messina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>IRCCS Centro Neurolesi "Bonino-Pulejo"</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>IRCCS Centro Neurolesi "Bonino-Pulejo"</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Saint-Paul, Hôpital Henri Gastaut</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognitive disorder</term>
<term>Convulsion</term>
<term>Nervous system diseases</term>
<term>Progressive myoclonus epilepsy</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Epilepsie myoclonique familiale d'Unverricht-Lundborg</term>
<term>Trouble cognitif</term>
<term>Convulsion</term>
<term>Pathologie du   système nerveux</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
<li>Italie</li>
</country>
<settlement><li>Marseille</li>
<li>Paris</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name>
</noRegion>
<name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
<name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
<name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
<name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
</country>
<country name="France"><noRegion><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
</noRegion>
<name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
<name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
<name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003014 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 003014 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:09-0257366
   |texte=   Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	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.

Movement Disorders (revue)

Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment

Description of a Family with a Novel Progressive Myoclonus Epilepsy and Cognitive Impairment

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri