MovDisordV3, France, Analysis, bibRecord, 000258

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

Identifieur interne : 000258 ( France/Analysis ); précédent : 000257; suivant : 000259

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 ] ; 2009-05-15.

RBID : ISTEX:CAE1143F83AA8C336A38C27B58D994EE61AF8AB6

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Algeria, Cognition Disorders (complications), Cognition Disorders (genetics), Cognitive disorder, Convulsion, Electroencephalography (methods), Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Nervous system diseases, Neural Conduction (physiology), Neurologic Examination, Neuropsychological Tests, Progressive myoclonus epilepsy, Young Adult, cognitive impairment, progressive myoclonus epilepsy, seizures.
MESH :
- geographic : Algeria.
- complications : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- genetics : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- methods : Electroencephalography.
- physiology : Neural Conduction.
- Adolescent, Adult, Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Neuropsychological Tests, Young Adult.

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. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/CAE1143F83AA8C336A38C27B58D994EE61AF8AB6/fulltext/pdf

DOI: 10.1002/mds.22489

Affiliations:

France, Italie
Marseille, Paris

Links to Exploration step

ISTEX:CAE1143F83AA8C336A38C27B58D994EE61AF8AB6

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
</author>
<author><name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
</author>
<author><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
</author>
<author><name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
</author>
<author><name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
</author>
<author><name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
</author>
<author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
</author>
<author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CAE1143F83AA8C336A38C27B58D994EE61AF8AB6</idno>
<date when="2009" year="2009">2009</date>
<idno type="doi">10.1002/mds.22489</idno>
<idno type="url">https://api.istex.fr/document/CAE1143F83AA8C336A38C27B58D994EE61AF8AB6/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002C49</idno>
<idno type="wicri:Area/Istex/Curation">002C49</idno>
<idno type="wicri:Area/Istex/Checkpoint">000F61</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Ferlazzo E:description:of:a</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:19243074</idno>
<idno type="wicri:Area/PubMed/Corpus">001D93</idno>
<idno type="wicri:Area/PubMed/Curation">001D93</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001E62</idno>
<idno type="wicri:Area/Ncbi/Merge">002584</idno>
<idno type="wicri:Area/Ncbi/Curation">002584</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002584</idno>
<idno type="wicri:Area/Main/Merge">002C20</idno>
<idno type="wicri:source">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>
<idno type="wicri:Area/Main/Curation">002359</idno>
<idno type="wicri:Area/Main/Exploration">002359</idno>
<idno type="wicri:Area/France/Extraction">000258</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Centro Neurolesi “Bonino‐Pulejo”, Messina</wicri:regionArea>
<wicri:noRegion>Messina</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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Centro Neurolesi “Bonino‐Pulejo”, Messina</wicri:regionArea>
<wicri:noRegion>Messina</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"><country xml:lang="fr">France</country>
<wicri:regionArea>Physiopathologie et pathogenèse des Maladies Neurodégénératives du Système Nerveux Central INSERM U289, Hôpital de la Salpêtrière, Paris</wicri:regionArea>
<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"><country xml:lang="fr">France</country>
<wicri:regionArea>Centre Saint‐Paul, Hôpital Henri Gastaut, Marseille</wicri:regionArea>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Child Neurology and Psychiatry, University of Messina, Messina</wicri:regionArea>
<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"><country xml:lang="fr">France</country>
<wicri:regionArea>Centre Saint‐Paul, Hôpital Henri Gastaut, Marseille</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Centro Neurolesi “Bonino‐Pulejo”, Messina</wicri:regionArea>
<wicri:noRegion>Messina</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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Centro Neurolesi “Bonino‐Pulejo”, Messina</wicri:regionArea>
<wicri:noRegion>Messina</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"><country xml:lang="fr">France</country>
<wicri:regionArea>Centre Saint‐Paul, Hôpital Henri Gastaut, Marseille</wicri:regionArea>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2009-05-15">2009-05-15</date>
<biblScope unit="vol">24</biblScope>
<biblScope unit="issue">7</biblScope>
<biblScope unit="page" from="1016">1016</biblScope>
<biblScope unit="page" to="1022">1022</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CAE1143F83AA8C336A38C27B58D994EE61AF8AB6</idno>
<idno type="DOI">10.1002/mds.22489</idno>
<idno type="ArticleID">MDS22489</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Algeria</term>
<term>Cognition Disorders (complications)</term>
<term>Cognition Disorders (genetics)</term>
<term>Cognitive disorder</term>
<term>Convulsion</term>
<term>Electroencephalography (methods)</term>
<term>Electromyography</term>
<term>Evoked Potentials, Visual</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Myoclonic Epilepsies, Progressive (complications)</term>
<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Nervous system diseases</term>
<term>Neural Conduction (physiology)</term>
<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
<term>Progressive myoclonus epilepsy</term>
<term>Young Adult</term>
<term>cognitive impairment</term>
<term>progressive myoclonus epilepsy</term>
<term>seizures</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Algeria</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term>
<term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term>
<term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Electroencephalography</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Neural Conduction</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Electromyography</term>
<term>Evoked Potentials, Visual</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Convulsion</term>
<term>Epilepsie myoclonique familiale d'Unverricht-Lundborg</term>
<term>Pathologie du   système nerveux</term>
<term>Trouble cognitif</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Algérie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</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. © 2009 Movement Disorder Society</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/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000258 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000258 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     ISTEX:CAE1143F83AA8C336A38C27B58D994EE61AF8AB6
   |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)

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

	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.