MovDisordV3, PascalFrancis, Curation, bibRecord, 000621

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Identifieur interne : 000621 ( PascalFrancis/Curation ); précédent : 000620; suivant : 000622

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Auteurs : Sian D. Spacey [Royaume-Uni, Canada] ; Enza-Maria Valente [Royaume-Uni, Italie] ; Gurusidheshwar M. Wali [Inde] ; Thomas T. Warner [Royaume-Uni] ; Paul R. Jarman [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni] ; Peter H. Dixon [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0456857

Descripteurs français

Pascal (Inist)
- Dyskinésie, Mouvement corporel, Brutal, Locus, Chromosome E16, Liaison génétique, Convulsion, Phénotype, Etude familiale, Déterminisme génétique, Homme, Gène EKD.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Body movement, Chromosome E16, Convulsion, Dyskinesia, Family study, Genetic determinism, Human, Linkage, Locus, Phenotype, Sudden.

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.

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A08	`01`	`1`	`ENG`	`@1 Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene`
A11	`01`	`1`		`@1 SPACEY (Sian D.)`
A11	`02`	`1`		`@1 VALENTE (Enza-Maria)`
A11	`03`	`1`		`@1 WALI (Gurusidheshwar M.)`
A11	`04`	`1`		`@1 WARNER (Thomas T.)`
A11	`05`	`1`		`@1 JARMAN (Paul R.)`
A11	`06`	`1`		`@1 SCHAPIRA (Anthony H. V.)`
A11	`07`	`1`		`@1 DIXON (Peter H.)`
A11	`08`	`1`		`@1 DAVIS (Mary B.)`
A11	`09`	`1`		`@1 BHATIA (Kailash P.)`
A11	`10`	`1`		`@1 WOOD (Nicholas W.)`
A14	`01`			`@1 Department of Molecular Pothogenesis, Institute of Neurology, University College London @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut. @Z 10 aut.`
A14	`02`			`@1 Division of Neurology, University of British Columbia @2 Vancouver, British Columbia @3 CAN @Z 1 aut.`
A14	`03`			`@1 Department of Neurology, Catholic University @2 Rome @3 ITA @Z 2 aut.`
A14	`04`			`@1 Department of Neurology, Jawnharlal Nehru Medical Centre, KLE Society Hospital @2 Belguam, Karnataka @3 IND @Z 3 aut.`
A14	`05`			`@1 Royal Free and University College Medical School, University College London @2 London @3 GBR @Z 4 aut. @Z 6 aut.`
A20				`@1 717-725`
A21				`@1 2002`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000108922560120`
A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
A45				`@0 33 ref.`
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C01	`01`		`ENG`	@0 Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.
C02	`01`	`X`		`@0 002B17A01`
C03	`01`	`X`	`FRE`	`@0 Dyskinésie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dyskinesia @5 01`
C03	`01`	`X`	`SPA`	`@0 Disquinesia @5 01`
C03	`02`	`X`	`FRE`	`@0 Mouvement corporel @5 02`
C03	`02`	`X`	`ENG`	`@0 Body movement @5 02`
C03	`02`	`X`	`SPA`	`@0 Movimiento corporal @5 02`
C03	`03`	`X`	`FRE`	`@0 Brutal @5 03`
C03	`03`	`X`	`ENG`	`@0 Sudden @5 03`
C03	`03`	`X`	`SPA`	`@0 Súbito @5 03`
C03	`04`	`X`	`FRE`	`@0 Locus @5 04`
C03	`04`	`X`	`ENG`	`@0 Locus @5 04`
C03	`04`	`X`	`SPA`	`@0 Locus @5 04`
C03	`05`	`X`	`FRE`	`@0 Chromosome E16 @5 05`
C03	`05`	`X`	`ENG`	`@0 Chromosome E16 @5 05`
C03	`05`	`X`	`SPA`	`@0 Cromosoma E16 @5 05`
C03	`06`	`X`	`FRE`	`@0 Liaison génétique @5 07`
C03	`06`	`X`	`ENG`	`@0 Linkage @5 07`
C03	`06`	`X`	`SPA`	`@0 Ligamiento genético @5 07`
C03	`07`	`X`	`FRE`	`@0 Convulsion @5 10`
C03	`07`	`X`	`ENG`	`@0 Convulsion @5 10`
C03	`07`	`X`	`SPA`	`@0 Convulsión @5 10`
C03	`08`	`X`	`FRE`	`@0 Phénotype @5 11`
C03	`08`	`X`	`ENG`	`@0 Phenotype @5 11`
C03	`08`	`X`	`SPA`	`@0 Fenotipo @5 11`
C03	`09`	`X`	`FRE`	`@0 Etude familiale @5 17`
C03	`09`	`X`	`ENG`	`@0 Family study @5 17`
C03	`09`	`X`	`SPA`	`@0 Estudio familiar @5 17`
C03	`10`	`X`	`FRE`	`@0 Déterminisme génétique @5 18`
C03	`10`	`X`	`ENG`	`@0 Genetic determinism @5 18`
C03	`10`	`X`	`SPA`	`@0 Determinismo genético @5 18`
C03	`11`	`X`	`FRE`	`@0 Homme @5 20`
C03	`11`	`X`	`ENG`	`@0 Human @5 20`
C03	`11`	`X`	`SPA`	`@0 Hombre @5 20`
C03	`12`	`X`	`FRE`	`@0 Gène EKD @4 INC @5 86`
C07	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 37`
C07	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 40`
C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 40`
C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 40`
N21				`@1 266`
N82				`@1 PSI`

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Pascal:02-0456857

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene</title>
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<author><name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M." last="Wali">Gurusidheshwar M. Wali</name>
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<author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T." last="Warner">Thomas T. Warner</name>
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<author><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R." last="Jarman">Paul R. Jarman</name>
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<author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name>
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<author><name sortKey="Dixon, Peter H" sort="Dixon, Peter H" uniqKey="Dixon P" first="Peter H." last="Dixon">Peter H. Dixon</name>
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<s2>London</s2>
<s3>GBR</s3>
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<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Pothogenesis, Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Pothogenesis, Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Pothogenesis, Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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</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="2002">2002</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>Body movement</term>
<term>Chromosome E16</term>
<term>Convulsion</term>
<term>Dyskinesia</term>
<term>Family study</term>
<term>Genetic determinism</term>
<term>Human</term>
<term>Linkage</term>
<term>Locus</term>
<term>Phenotype</term>
<term>Sudden</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dyskinésie</term>
<term>Mouvement corporel</term>
<term>Brutal</term>
<term>Locus</term>
<term>Chromosome E16</term>
<term>Liaison génétique</term>
<term>Convulsion</term>
<term>Phénotype</term>
<term>Etude familiale</term>
<term>Déterminisme génétique</term>
<term>Homme</term>
<term>Gène EKD</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<front><div type="abstract" xml:lang="en">Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene</s1>
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<fA11 i1="01" i2="1"><s1>SPACEY (Sian D.)</s1>
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<fA11 i1="02" i2="1"><s1>VALENTE (Enza-Maria)</s1>
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<fA11 i1="03" i2="1"><s1>WALI (Gurusidheshwar M.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>WARNER (Thomas T.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>JARMAN (Paul R.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SCHAPIRA (Anthony H. V.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>DIXON (Peter H.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>DAVIS (Mary B.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BHATIA (Kailash P.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>WOOD (Nicholas W.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Molecular Pothogenesis, Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Division of Neurology, University of British Columbia</s1>
<s2>Vancouver, British Columbia</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Neurology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, Jawnharlal Nehru Medical Centre, KLE Society Hospital</s1>
<s2>Belguam, Karnataka</s2>
<s3>IND</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Royal Free and University College Medical School, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA20><s1>717-725</s1>
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<fA21><s1>2002</s1>
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<fC01 i1="01" l="ENG"><s0>Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17A01</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Dyskinésie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dyskinesia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Disquinesia</s0>
<s5>01</s5>
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<fC03 i1="02" i2="X" l="FRE"><s0>Mouvement corporel</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Body movement</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Movimiento corporal</s0>
<s5>02</s5>
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<fC03 i1="03" i2="X" l="FRE"><s0>Brutal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Sudden</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Súbito</s0>
<s5>03</s5>
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<s5>04</s5>
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<fC03 i1="04" i2="X" l="ENG"><s0>Locus</s0>
<s5>04</s5>
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<fC03 i1="04" i2="X" l="SPA"><s0>Locus</s0>
<s5>04</s5>
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<fC03 i1="05" i2="X" l="FRE"><s0>Chromosome E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Chromosome E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cromosoma E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Linkage</s0>
<s5>07</s5>
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<fC03 i1="06" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>07</s5>
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<fC03 i1="07" i2="X" l="FRE"><s0>Convulsion</s0>
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<fC03 i1="07" i2="X" l="SPA"><s0>Convulsión</s0>
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<s5>11</s5>
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<fC03 i1="08" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Family study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>17</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>18</s5>
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<fC03 i1="10" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>18</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>18</s5>
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<fC03 i1="11" i2="X" l="FRE"><s0>Homme</s0>
<s5>20</s5>
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<s5>20</s5>
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<fC03 i1="11" i2="X" l="SPA"><s0>Hombre</s0>
<s5>20</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Gène EKD</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
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<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>39</s5>
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<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
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<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>39</s5>
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<fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fN21><s1>266</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
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</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

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