Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
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Author / Creator
Bartnik, Magdalena , Derwińska, Katarzyna , Gos, Monika , Obersztyn, Ewa , Kołodziejska, Katarzyna E. , Erez, Ayelet , Szpecht-Potocka, Agnieszka , Fang, Ping , Terczyńska, Iwona , Mierzewska, Hanna , Lohr, Naomi J. , Bellus, Gary A. , Reimschisel, Tyler , Bocian, Ewa , Mazurczak, Tadeusz , Cheung, Sau Wai and Stankiewicz, Paweł
Publisher
New York: Elsevier Inc
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Language
English
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Publisher
New York: Elsevier Inc
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Scope and Contents
Contents
Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. We attempted to assess the role of mosaic intragenic copy number variation in CDKL5.
We have used com...
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Full title
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
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Record Identifier
TN_cdi_proquest_miscellaneous_954642852
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_954642852
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1097/GIM.0b013e31820605f5
