PRRT2 Mutations are the major cause of benign familial infantile seizures
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic...
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| Veröffentlicht in: | Human mutation 2012-10, Vol.33 (10), p.1439-1443 |
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| creator | Schubert, Julian Paravidino, Roberta Becker, Felicitas Berger, Andrea Bebek, Nerses Bianchi, Amedeo Brockmann, Knut Capovilla, Giuseppe Dalla Bernardina, Bernardo Fukuyama, Yukio Hoffmann, Georg F. Jurkat-Rott, Karin Anttonen, Anna-Kaisa Kurlemann, Gerhard Lehesjoki, Anna-Elina Lehmann-Horn, Frank Mastrangelo, Massimo Mause, Ulrike Müller, Stephan Neubauer, Bernd Püst, Burkhard Rating, Dietz Robbiano, Angela Ruf, Susanne Schroeder, Christopher Seidel, Andreas Specchio, Nicola Stephani, Ulrich Striano, Pasquale Teichler, Jens Turkdogan, Dilsad Vigevano, Federico Viri, Maurizio Bauer, Peter Zara, Federico Lerche, Holger Weber, Yvonne G. |
| description | Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late‐onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439–1443, 2012. © 2012 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/humu.22126 |
| format | Article |
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We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late‐onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439–1443, 2012. © 2012 Wiley Periodicals, Inc.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.22126</identifier><identifier>PMID: 22623405</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; choreoathetosis ; epilepsy ; Humans ; Infant ; Male ; Membrane Proteins - genetics ; Middle Aged ; Mutation ; Nerve Tissue Proteins - genetics ; Pedigree ; PRRT2 ; Seizures, Febrile - genetics ; Spasms, Infantile - genetics ; synaptic vesicle</subject><ispartof>Human mutation, 2012-10, Vol.33 (10), p.1439-1443</ispartof><rights>2012 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4946-f94f427c088f09fde7a7b38b4944f4029046a6878d24f7545805f19414017bfc3</citedby><cites>FETCH-LOGICAL-c4946-f94f427c088f09fde7a7b38b4944f4029046a6878d24f7545805f19414017bfc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.22126$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.22126$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22623405$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schubert, Julian</creatorcontrib><creatorcontrib>Paravidino, Roberta</creatorcontrib><creatorcontrib>Becker, Felicitas</creatorcontrib><creatorcontrib>Berger, Andrea</creatorcontrib><creatorcontrib>Bebek, Nerses</creatorcontrib><creatorcontrib>Bianchi, Amedeo</creatorcontrib><creatorcontrib>Brockmann, Knut</creatorcontrib><creatorcontrib>Capovilla, Giuseppe</creatorcontrib><creatorcontrib>Dalla Bernardina, Bernardo</creatorcontrib><creatorcontrib>Fukuyama, Yukio</creatorcontrib><creatorcontrib>Hoffmann, Georg F.</creatorcontrib><creatorcontrib>Jurkat-Rott, Karin</creatorcontrib><creatorcontrib>Anttonen, Anna-Kaisa</creatorcontrib><creatorcontrib>Kurlemann, Gerhard</creatorcontrib><creatorcontrib>Lehesjoki, Anna-Elina</creatorcontrib><creatorcontrib>Lehmann-Horn, Frank</creatorcontrib><creatorcontrib>Mastrangelo, Massimo</creatorcontrib><creatorcontrib>Mause, Ulrike</creatorcontrib><creatorcontrib>Müller, Stephan</creatorcontrib><creatorcontrib>Neubauer, Bernd</creatorcontrib><creatorcontrib>Püst, Burkhard</creatorcontrib><creatorcontrib>Rating, Dietz</creatorcontrib><creatorcontrib>Robbiano, Angela</creatorcontrib><creatorcontrib>Ruf, Susanne</creatorcontrib><creatorcontrib>Schroeder, Christopher</creatorcontrib><creatorcontrib>Seidel, Andreas</creatorcontrib><creatorcontrib>Specchio, Nicola</creatorcontrib><creatorcontrib>Stephani, Ulrich</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Teichler, Jens</creatorcontrib><creatorcontrib>Turkdogan, Dilsad</creatorcontrib><creatorcontrib>Vigevano, Federico</creatorcontrib><creatorcontrib>Viri, Maurizio</creatorcontrib><creatorcontrib>Bauer, Peter</creatorcontrib><creatorcontrib>Zara, Federico</creatorcontrib><creatorcontrib>Lerche, Holger</creatorcontrib><creatorcontrib>Weber, Yvonne G.</creatorcontrib><title>PRRT2 Mutations are the major cause of benign familial infantile seizures</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late‐onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439–1443, 2012. © 2012 Wiley Periodicals, Inc.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>choreoathetosis</subject><subject>epilepsy</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Pedigree</subject><subject>PRRT2</subject><subject>Seizures, Febrile - genetics</subject><subject>Spasms, Infantile - genetics</subject><subject>synaptic vesicle</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtPGzEURq2qqLy66Q-oLLFBSAO2x89lhUhCxEtRoi4tz8QuTucB9lg8fj0OARZd0JUt33OPru8HwA-MjjFC5OQ2temYEEz4F7CDkZJFfqZf13emCiEU3Qa7Ma4QQpKx8hvYJoSTkiK2A85vZrM5gZdpMIPvuwhNsHC4tbA1qz7A2qRoYe9gZTv_p4POtL7xpoG-c6YbfGNhtP45BRv3wZYzTbTf3849sBidzU8nxcX1-Pz010VRU0V54RR1lIgaSemQcksrjKhKWeViLiCiEOWGSyGXhDrBKJOIOawopgiLytXlHjjceO9Cf59sHHTrY22bxnS2T1FjITgXBJXy_ygqlZSUUJHRg3_QVZ9Clz-ShZzL9VwsU0cbqg59jME6fRd8a8JTVul1FnqdhX7NIsM_35Spau3yA31ffgbwBnjIe3z6RKUni8vFu7TY9Pg42MePHhP-ai5KwfTvq7Ge8rkkUzbS4_IFLfaf4g</recordid><startdate>201210</startdate><enddate>201210</enddate><creator>Schubert, Julian</creator><creator>Paravidino, Roberta</creator><creator>Becker, Felicitas</creator><creator>Berger, Andrea</creator><creator>Bebek, Nerses</creator><creator>Bianchi, Amedeo</creator><creator>Brockmann, Knut</creator><creator>Capovilla, Giuseppe</creator><creator>Dalla Bernardina, Bernardo</creator><creator>Fukuyama, Yukio</creator><creator>Hoffmann, Georg F.</creator><creator>Jurkat-Rott, Karin</creator><creator>Anttonen, Anna-Kaisa</creator><creator>Kurlemann, Gerhard</creator><creator>Lehesjoki, Anna-Elina</creator><creator>Lehmann-Horn, Frank</creator><creator>Mastrangelo, Massimo</creator><creator>Mause, Ulrike</creator><creator>Müller, Stephan</creator><creator>Neubauer, Bernd</creator><creator>Püst, Burkhard</creator><creator>Rating, Dietz</creator><creator>Robbiano, Angela</creator><creator>Ruf, Susanne</creator><creator>Schroeder, Christopher</creator><creator>Seidel, Andreas</creator><creator>Specchio, Nicola</creator><creator>Stephani, Ulrich</creator><creator>Striano, Pasquale</creator><creator>Teichler, Jens</creator><creator>Turkdogan, Dilsad</creator><creator>Vigevano, Federico</creator><creator>Viri, Maurizio</creator><creator>Bauer, Peter</creator><creator>Zara, Federico</creator><creator>Lerche, Holger</creator><creator>Weber, Yvonne G.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Hindawi Limited</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201210</creationdate><title>PRRT2 Mutations are the major cause of benign familial infantile seizures</title><author>Schubert, Julian ; Paravidino, Roberta ; Becker, Felicitas ; Berger, Andrea ; Bebek, Nerses ; Bianchi, Amedeo ; Brockmann, Knut ; Capovilla, Giuseppe ; Dalla Bernardina, Bernardo ; Fukuyama, Yukio ; Hoffmann, Georg F. ; Jurkat-Rott, Karin ; Anttonen, Anna-Kaisa ; Kurlemann, Gerhard ; Lehesjoki, Anna-Elina ; Lehmann-Horn, Frank ; Mastrangelo, Massimo ; Mause, Ulrike ; Müller, Stephan ; Neubauer, Bernd ; Püst, Burkhard ; Rating, Dietz ; Robbiano, Angela ; Ruf, Susanne ; Schroeder, Christopher ; Seidel, Andreas ; Specchio, Nicola ; Stephani, Ulrich ; Striano, Pasquale ; Teichler, Jens ; Turkdogan, Dilsad ; Vigevano, Federico ; Viri, Maurizio ; Bauer, Peter ; Zara, Federico ; Lerche, Holger ; Weber, Yvonne G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4946-f94f427c088f09fde7a7b38b4944f4029046a6878d24f7545805f19414017bfc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>choreoathetosis</topic><topic>epilepsy</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Pedigree</topic><topic>PRRT2</topic><topic>Seizures, Febrile - genetics</topic><topic>Spasms, Infantile - genetics</topic><topic>synaptic vesicle</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schubert, Julian</creatorcontrib><creatorcontrib>Paravidino, Roberta</creatorcontrib><creatorcontrib>Becker, Felicitas</creatorcontrib><creatorcontrib>Berger, Andrea</creatorcontrib><creatorcontrib>Bebek, Nerses</creatorcontrib><creatorcontrib>Bianchi, Amedeo</creatorcontrib><creatorcontrib>Brockmann, Knut</creatorcontrib><creatorcontrib>Capovilla, Giuseppe</creatorcontrib><creatorcontrib>Dalla Bernardina, Bernardo</creatorcontrib><creatorcontrib>Fukuyama, Yukio</creatorcontrib><creatorcontrib>Hoffmann, Georg F.</creatorcontrib><creatorcontrib>Jurkat-Rott, Karin</creatorcontrib><creatorcontrib>Anttonen, Anna-Kaisa</creatorcontrib><creatorcontrib>Kurlemann, Gerhard</creatorcontrib><creatorcontrib>Lehesjoki, Anna-Elina</creatorcontrib><creatorcontrib>Lehmann-Horn, Frank</creatorcontrib><creatorcontrib>Mastrangelo, Massimo</creatorcontrib><creatorcontrib>Mause, Ulrike</creatorcontrib><creatorcontrib>Müller, Stephan</creatorcontrib><creatorcontrib>Neubauer, Bernd</creatorcontrib><creatorcontrib>Püst, Burkhard</creatorcontrib><creatorcontrib>Rating, Dietz</creatorcontrib><creatorcontrib>Robbiano, Angela</creatorcontrib><creatorcontrib>Ruf, Susanne</creatorcontrib><creatorcontrib>Schroeder, Christopher</creatorcontrib><creatorcontrib>Seidel, Andreas</creatorcontrib><creatorcontrib>Specchio, Nicola</creatorcontrib><creatorcontrib>Stephani, Ulrich</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Teichler, Jens</creatorcontrib><creatorcontrib>Turkdogan, Dilsad</creatorcontrib><creatorcontrib>Vigevano, Federico</creatorcontrib><creatorcontrib>Viri, Maurizio</creatorcontrib><creatorcontrib>Bauer, Peter</creatorcontrib><creatorcontrib>Zara, Federico</creatorcontrib><creatorcontrib>Lerche, Holger</creatorcontrib><creatorcontrib>Weber, Yvonne G.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - 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Mutat</addtitle><date>2012-10</date><risdate>2012</risdate><volume>33</volume><issue>10</issue><spage>1439</spage><epage>1443</epage><pages>1439-1443</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late‐onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439–1443, 2012. © 2012 Wiley Periodicals, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>22623405</pmid><doi>10.1002/humu.22126</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Child Child, Preschool choreoathetosis epilepsy Humans Infant Male Membrane Proteins - genetics Middle Aged Mutation Nerve Tissue Proteins - genetics Pedigree PRRT2 Seizures, Febrile - genetics Spasms, Infantile - genetics synaptic vesicle |
| title | PRRT2 Mutations are the major cause of benign familial infantile seizures |
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