AustralieFrV1, Main, Exploration, bibRecord, 005D42

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Identifieur interne : 005D42 ( Main/Exploration ); précédent : 005D41; suivant : 005D43

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Auteurs : Erin L. Heinzen [États-Unis] ; Kathryn J. Swoboda [États-Unis] ; Yuki Hitomi [États-Unis] ; Fiorella Gurrieri [Italie] ; Sophie Nicole [France] ; Boukje De Vries [Pays-Bas] ; F. Danilo Tiziano [Italie] ; Bertrand Fontaine [France] ; Nicole M. Walley [États-Unis] ; Sinead Heavin [Australie] ; Eleni Panagiotakaki [France] ; Stefania Fiori [Italie] ; Emanuela Abiusi [Italie] ; Lorena Di Pietro [Italie] ; Matthew T. Sweney [États-Unis] ; Tara M. Newcomb [États-Unis] ; Louis Viollet [États-Unis] ; Chad Huff [États-Unis] ; Lynn B. Jorde [États-Unis] ; Sandra P. Reyna [États-Unis] ; Kelley J. Murphy [États-Unis] ; Kevin V. Shianna [États-Unis] ; Curtis E. Gumbs [États-Unis] ; Latasha Little [États-Unis] ; Kenneth Silver [États-Unis] ; Louis J. Ptacek [États-Unis] ; Joost Haan [Pays-Bas] ; Michel D. Ferrari [Pays-Bas] ; Ann M. Bye [Australie] ; Geoffrey K. Herkes [Australie] ; Charlotte M. Whitelaw [Australie] ; David Webb [Irlande (pays)] ; Bryan J. Lynch [Irlande (pays)] ; Peter Uldall ; Mary D. King [Irlande (pays)] ; Ingrid E. Scheffer [Australie] ; Giovanni Neri [Italie] ; Alexis Arzimanoglou [France] ; Arn M. J. M. Van Den Maagdenberg [Pays-Bas] ; Sanjay M. Sisodiya ; Mohamad A. Mikati ; David B. Goldstein [États-Unis]

Source :

Nature genetics [ 1061-4036 ] ; 2012.

RBID : Pascal:12-0376487

Descripteurs français

Pascal (Inist)
- De novo, Mutation, Hémiplégie.

English descriptors

KwdEn :
- De novo, Hemiplegia, Mutation.

Abstract

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3.

Affiliations:

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Le document en format XML

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<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Little, Latasha" sort="Little, Latasha" uniqKey="Little L" first="Latasha" last="Little">Latasha Little</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name>
<affiliation wicri:level="2"><inist:fA14 i1="14"><s1>Department of Neurology, Comer Children's Hospital, University of Chicago</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="15"><s1>Department of Pediatrics, Comer Children's Hospital, University of Chicago</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ptacek, Louis J" sort="Ptacek, Louis J" uniqKey="Ptacek L" first="Louis J." last="Ptacek">Louis J. Ptacek</name>
<affiliation wicri:level="2"><inist:fA14 i1="16"><s1>Department of Neurology, University of California, San Francisco</s1>
<s2>San Francisco, California</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="17"><s1>Howard Hughes Medical Institute, University of California, San Francisco</s1>
<s2>San Francisco, California</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Neurology, Rijnland Hospital</s1>
<s2>Leiderdorp</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Leiderdorp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ferrari, Michel D" sort="Ferrari, Michel D" uniqKey="Ferrari M" first="Michel D." last="Ferrari">Michel D. Ferrari</name>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Paediatric Neurology, Sydney Children's Hospital, Randwick</s1>
<s2>New South Wales</s2>
<s3>AUS</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Herkes, Geoffrey K" sort="Herkes, Geoffrey K" uniqKey="Herkes G" first="Geoffrey K." last="Herkes">Geoffrey K. Herkes</name>
<affiliation wicri:level="4"><inist:fA14 i1="21"><s1>University of Sydney, Royal North Shore Hospital, St. Leonards, Sydney</s1>
<s2>New South Wales</s2>
<s3>AUS</s3>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Whitelaw, Charlotte M" sort="Whitelaw, Charlotte M" uniqKey="Whitelaw C" first="Charlotte M." last="Whitelaw">Charlotte M. Whitelaw</name>
<affiliation wicri:level="4"><inist:fA14 i1="22"><s1>Northern Clinical School, University of Sydney, and Royal North Shore Hospital</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Webb, David" sort="Webb, David" uniqKey="Webb D" first="David" last="Webb">David Webb</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Our Lady's Children's Hospital</s1>
<s2>Crumlin, Dublin</s2>
<s3>IRL</s3>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Our Lady's Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lynch, Bryan J" sort="Lynch, Bryan J" uniqKey="Lynch B" first="Bryan J." last="Lynch">Bryan J. Lynch</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>The Children's University Hospital, Temple Street</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>33 aut.</sZ>
<sZ>35 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name>
</author>
<author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>The Children's University Hospital, Temple Street</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>33 aut.</sZ>
<sZ>35 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
<sZ>36 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Epilepsy, Sleep and Pediatric Neurophysiology Department, Woman-Mother-Child Hospital, University Hospitals of Lyon (HCL)</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Human Genetics, Leiden University Medical Centre</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
</author>
<author><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A." last="Mikati">Mohamad A. Mikati</name>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
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<idno type="wicri:doubleKey">1061-4036:2012:Heinzen E:de:novo:mutations</idno>
<idno type="wicri:Area/Main/Merge">006056</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">De novo mutations in ATP1A3 cause alternating hemiplegia of childhood</title>
<author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L." last="Heinzen">Erin L. Heinzen</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medicine, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Utah, Salt Lake City</s1>
<s2>Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurology, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hitomi, Yuki" sort="Hitomi, Yuki" uniqKey="Hitomi Y" first="Yuki" last="Hitomi">Yuki Hitomi</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière UMR S975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut National de la Sante et de la Recherche Médicale, U975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre National de la Recherche Scientifique, UMR7225</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Vries, Boukje" sort="De Vries, Boukje" uniqKey="De Vries B" first="Boukje" last="De Vries">Boukje De Vries</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Human Genetics, Leiden University Medical Centre</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tiziano, F Danilo" sort="Tiziano, F Danilo" uniqKey="Tiziano F" first="F. Danilo" last="Tiziano">F. Danilo Tiziano</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière UMR S975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut National de la Sante et de la Recherche Médicale, U975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre National de la Recherche Scientifique, UMR7225</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Assistance Publique-Hôpitaux de Paris, Departement de Neurologie & Centre de Reference Canalopathies Musculaires, Groupe Hospitalier de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Walley, Nicole M" sort="Walley, Nicole M" uniqKey="Walley N" first="Nicole M." last="Walley">Nicole M. Walley</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heavin, Sinead" sort="Heavin, Sinead" uniqKey="Heavin S" first="Sinead" last="Heavin">Sinead Heavin</name>
<affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
<sZ>36 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Panagiotakaki, Eleni" sort="Panagiotakaki, Eleni" uniqKey="Panagiotakaki E" first="Eleni" last="Panagiotakaki">Eleni Panagiotakaki</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Epilepsy, Sleep and Pediatric Neurophysiology Department, Woman-Mother-Child Hospital, University Hospitals of Lyon (HCL)</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fiori, Stefania" sort="Fiori, Stefania" uniqKey="Fiori S" first="Stefania" last="Fiori">Stefania Fiori</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abiusi, Emanuela" sort="Abiusi, Emanuela" uniqKey="Abiusi E" first="Emanuela" last="Abiusi">Emanuela Abiusi</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Di Pietro, Lorena" sort="Di Pietro, Lorena" uniqKey="Di Pietro L" first="Lorena" last="Di Pietro">Lorena Di Pietro</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sweney, Matthew T" sort="Sweney, Matthew T" uniqKey="Sweney M" first="Matthew T." last="Sweney">Matthew T. Sweney</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Utah, Salt Lake City</s1>
<s2>Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Newcomb, Tara M" sort="Newcomb, Tara M" uniqKey="Newcomb T" first="Tara M." last="Newcomb">Tara M. Newcomb</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Pediatrics, University of Utah, Salt Lake City</s1>
<s2>Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurology, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name>
<affiliation wicri:level="2"><inist:fA14 i1="13"><s1>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B." last="Jorde">Lynn B. Jorde</name>
<affiliation wicri:level="2"><inist:fA14 i1="13"><s1>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reyna, Sandra P" sort="Reyna, Sandra P" uniqKey="Reyna S" first="Sandra P." last="Reyna">Sandra P. Reyna</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurology, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Murphy, Kelley J" sort="Murphy, Kelley J" uniqKey="Murphy K" first="Kelley J." last="Murphy">Kelley J. Murphy</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurology, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shianna, Kevin V" sort="Shianna, Kevin V" uniqKey="Shianna K" first="Kevin V." last="Shianna">Kevin V. Shianna</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medicine, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gumbs, Curtis E" sort="Gumbs, Curtis E" uniqKey="Gumbs C" first="Curtis E." last="Gumbs">Curtis E. Gumbs</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Little, Latasha" sort="Little, Latasha" uniqKey="Little L" first="Latasha" last="Little">Latasha Little</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name>
<affiliation wicri:level="2"><inist:fA14 i1="14"><s1>Department of Neurology, Comer Children's Hospital, University of Chicago</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="15"><s1>Department of Pediatrics, Comer Children's Hospital, University of Chicago</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ptacek, Louis J" sort="Ptacek, Louis J" uniqKey="Ptacek L" first="Louis J." last="Ptacek">Louis J. Ptacek</name>
<affiliation wicri:level="2"><inist:fA14 i1="16"><s1>Department of Neurology, University of California, San Francisco</s1>
<s2>San Francisco, California</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="17"><s1>Howard Hughes Medical Institute, University of California, San Francisco</s1>
<s2>San Francisco, California</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Neurology, Rijnland Hospital</s1>
<s2>Leiderdorp</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Leiderdorp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ferrari, Michel D" sort="Ferrari, Michel D" uniqKey="Ferrari M" first="Michel D." last="Ferrari">Michel D. Ferrari</name>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Paediatric Neurology, Sydney Children's Hospital, Randwick</s1>
<s2>New South Wales</s2>
<s3>AUS</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Herkes, Geoffrey K" sort="Herkes, Geoffrey K" uniqKey="Herkes G" first="Geoffrey K." last="Herkes">Geoffrey K. Herkes</name>
<affiliation wicri:level="4"><inist:fA14 i1="21"><s1>University of Sydney, Royal North Shore Hospital, St. Leonards, Sydney</s1>
<s2>New South Wales</s2>
<s3>AUS</s3>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Whitelaw, Charlotte M" sort="Whitelaw, Charlotte M" uniqKey="Whitelaw C" first="Charlotte M." last="Whitelaw">Charlotte M. Whitelaw</name>
<affiliation wicri:level="4"><inist:fA14 i1="22"><s1>Northern Clinical School, University of Sydney, and Royal North Shore Hospital</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Webb, David" sort="Webb, David" uniqKey="Webb D" first="David" last="Webb">David Webb</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Our Lady's Children's Hospital</s1>
<s2>Crumlin, Dublin</s2>
<s3>IRL</s3>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Our Lady's Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lynch, Bryan J" sort="Lynch, Bryan J" uniqKey="Lynch B" first="Bryan J." last="Lynch">Bryan J. Lynch</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>The Children's University Hospital, Temple Street</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>33 aut.</sZ>
<sZ>35 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name>
</author>
<author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>The Children's University Hospital, Temple Street</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>33 aut.</sZ>
<sZ>35 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Department of Medicine, University of Melbourne, Austin Health</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
<sZ>36 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Epilepsy, Sleep and Pediatric Neurophysiology Department, Woman-Mother-Child Hospital, University Hospitals of Lyon (HCL)</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Human Genetics, Leiden University Medical Centre</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
</author>
<author><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A." last="Mikati">Mohamad A. Mikati</name>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genome Variation, Duke University School of Medicine</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>42 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>De novo</term>
<term>Hemiplegia</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>De novo</term>
<term>Mutation</term>
<term>Hémiplégie</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en">Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3.</div>
</front>
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

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