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A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

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Title: A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
Authors: Psoni S; Medical Genetics, University of Athens, Thivon and Levadias Street, Goudi 11527, Athens, Greece. psonistavroula@gmail.com, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S
Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2010 Mar; Vol. 14 (2), pp. 188-91. Date of Electronic Publication: 2009 May 09.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 19428276
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
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  Data: <searchLink fieldCode="AU" term="%22Psoni+S%22">Psoni S</searchLink>; Medical Genetics, University of Athens, Thivon and Levadias Street, Goudi 11527, Athens, Greece. psonistavroula@gmail.com<br /><searchLink fieldCode="AU" term="%22Willems+PJ%22">Willems PJ</searchLink><br /><searchLink fieldCode="AU" term="%22Kanavakis+E%22">Kanavakis E</searchLink><br /><searchLink fieldCode="AU" term="%22Mavrou+A%22">Mavrou A</searchLink><br /><searchLink fieldCode="AU" term="%22Frissyra+H%22">Frissyra H</searchLink><br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink><br /><searchLink fieldCode="AU" term="%22Sofokleous+C%22">Sofokleous C</searchLink><br /><searchLink fieldCode="AU" term="%22Makrythanassis+P%22">Makrythanassis P</searchLink><br /><searchLink fieldCode="AU" term="%22Kitsiou-Tzeli+S%22">Kitsiou-Tzeli S</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229715169%22">European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society</searchLink> [Eur J Paediatr Neurol] 2010 Mar; Vol. 14 (2), pp. 188-91. <i>Date of Electronic Publication: </i>2009 May 09.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Saunders%22">Saunders </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9715169 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1532-2130 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210903798%22">10903798 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Paediatr Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=19428276
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        Value: 10.1016/j.ejpn.2009.03.006
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      – Code: eng
        Text: English
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              Text: 2010 Mar
              Type: published
              Y: 2010
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