CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.
نویسندگان
چکیده
منابع مشابه
Early infantile epileptic encephalopathies
Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...
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Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we describe the physiological, molecular, and behavioral phenotyping of a Cdkl5 conditional knockout mouse model of CDKL5 disorder. Behavioral analysis of constitutive Cdkl5 knockout mice revealed key features of the human disorde...
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Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor functions deteriorate as a consequence of epileptic activity, which consists of frequent seizures and/or major interictal paroxysmal activity. There are various causes of EE and they may occur at any age in early childhood. Genetic mutations have been identified to contribute to an increasing num...
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Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and other diseases, e.g., X-linked myoclo...
متن کاملSynaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5.
Mutations in the X-linked CDKL5 (cyclin-dependent kinase-like 5) gene have been associated with several forms of neurodevelopmental disorders, including atypical Rett syndrome, autism spectrum disorders, and early infantile epileptic encephalopathy. Accordingly, loss of CDKL5 in mice results in autistic-like features and impaired neuronal communication. Although the biological functions of CDKL...
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عنوان ژورنال:
- Indian pediatrics
دوره 52 6 شماره
صفحات -
تاریخ انتشار 2015