| Document Date: 2013-07-25 09:42:29
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City Philadelphia / / Company Chiron / Donnelly / / Country United States / / Currency pence / / / Facility Institute of Medical Genetics / Tuberous Sclerosis Complex / Cardiff University / / IndustryTerm reduced energy consumption / factor machinery / energy metabolism / energy supply / serine/threonine protein kinase active site / energy / / MedicalCondition CDKL5 deficiency / finally multifocal and refractory myoclonic epilepsy / mitochondrial dysfunction / severe and debilitating disease / mental retardation / MECP2 deficiency / severe infantile encephalopathy / early-onset encephalopathy / seizures / human CDKL5 deficiency / CDKL5 disorder / severe mental retardation / severe X-linked infantile spasms / infantile spasms / Conclusion Deficiency / early epilepsy / irreversible seizures / early-onset seizure / drowsiness / early onset seizures / early-onset epilepsy / epilepsy / classical Rett syndrome / receptor-dependent long-term depression / deficiency / spontaneous seizures / Rett syndrome / / MedicalTreatment hormone treatment / / Organization School of Medicine / Cardiff University / Institute of Medical Genetics / / Person Williamson / Mandela / David Millar / / Position author / King / Major / Lecturer / Fisher / / Product Tao / adenosine / / ProvinceOrState CDKL5 / / Technology siRNA / gene expression / ATM / /
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A review of Evidence of CDKL5 Function Introduction CDKL5 is a serine-threonine kinase whose deficiency causes the early-onset variant of Rett syndrome. CDKL5 has been implicated in a number of different processes includ