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. |
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| 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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