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What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy
المؤلفون المشاركون
Kilstrup-Nielsen, Charlotte
Rusconi, Laura
La Montanara, Paolo
Ciceri, Dalila
Bergo, Anna
Bedogni, Francesco
Landsberger, Nicoletta
المصدر
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-05-23
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features.
The association of CDKL5 with neurodevelopmental disorders and its high expression levels in the maturing brain underscore the importance of this kinase for proper brain development.
However, our present knowledge of CDKL5 functions is still rather limited.
The picture that emerges from the molecular and cellular studies suggests that CDKL5 functions are important for regulating both neuronal morphology through cytoplasmic signaling pathways and activity-dependent gene expression in the nuclear compartment.
This paper surveys the current state of CDKL5 research with emphasis on the clinical symptoms associated with mutations in CDKL5, the different mechanisms regulating its functions, and the connected molecular pathways.
Finally, based on the available data we speculate that CDKL5 might play a role in neuronal plasticity and we adduce and discuss some possible arguments supporting this hypothesis.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kilstrup-Nielsen, Charlotte& Rusconi, Laura& La Montanara, Paolo& Ciceri, Dalila& Bergo, Anna& Bedogni, Francesco…[et al.]. 2012. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity،Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kilstrup-Nielsen, Charlotte…[et al.]. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity No. 2012 (2012), pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kilstrup-Nielsen, Charlotte& Rusconi, Laura& La Montanara, Paolo& Ciceri, Dalila& Bergo, Anna& Bedogni, Francesco…[et al.]. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity. 2012. Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1002453
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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