Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
Identifieur interne : 002584 ( Ncbi/Curation ); précédent : 002583; suivant : 002585Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
Auteurs : Edoardo Ferlazzo [Italie] ; Domenico Italiano ; Isabelle An ; Tiziana Calarese ; Virginie Laguitton ; Placido Bramanti ; Paolo Di Bella ; Pierre GentonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : Algérie.
English descriptors
- KwdEn :
- Adolescent, Adult, Algeria, Cognition Disorders (complications), Cognition Disorders (genetics), Electroencephalography (methods), Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Neural Conduction (physiology), Neurologic Examination, Neuropsychological Tests, Young Adult.
- 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.
DOI: 10.1002/mds.22489
PubMed: 19243074
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001D93
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001D93
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001E62
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002584
Links to Exploration step
pubmed:19243074Le document en format XML
<record><TEI><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>
<affiliation wicri:level="1"><nlm:affiliation>IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it</nlm:affiliation>
<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>
</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">PubMed</idno>
<date when="2009">2009</date>
<idno type="doi">10.1002/mds.22489</idno>
<idno type="RBID">pubmed:19243074</idno>
<idno type="pmid">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>
</publicationStmt>
<sourceDesc><biblStruct><analytic><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>
<affiliation wicri:level="1"><nlm:affiliation>IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it</nlm:affiliation>
<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>
</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>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</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>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>Neural Conduction (physiology)</term>
<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
<term>Young Adult</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="Wicri" type="geographic" xml:lang="fr"><term>Algérie</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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002584 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002584 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:19243074 |texte= Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:19243074" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |