相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The three stages of epilepsy in patients with CDKL5 mutations
Nadia Bahi-Buisson et al.
EPILEPSIA (2008)
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
H. Rosas-Vargas et al.
JOURNAL OF MEDICAL GENETICS (2008)
Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review
S. Grosso et al.
BRAIN & DEVELOPMENT (2007)
Stereotypies in Rett syndrome -: Analysis of 83 patients with and without detected MECP2 mutations
T. Temudo et al.
NEUROLOGY (2007)
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
Ilaria Bertani et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
H. L. Archer et al.
JOURNAL OF MEDICAL GENETICS (2006)
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
J. Nectoux et al.
CLINICAL GENETICS (2006)
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Thierry Bienvenu et al.
NATURE REVIEWS GENETICS (2006)
Myoclonic encephalopathy in the CDKL5 gene mutation
S Buoni et al.
CLINICAL NEUROPHYSIOLOGY (2006)
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
F Mari et al.
HUMAN MOLECULAR GENETICS (2005)
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala et al.
JOURNAL OF MEDICAL GENETICS (2005)
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
JC Evans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
J Tao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
VM Kalscheuer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)