Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

[1]  Andrew J. Grimm,et al.  A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain , 2012, Human Genetics.

[2]  P. Stankiewicz,et al.  Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females , 2011, Genetics in Medicine.

[3]  W. Lieb,et al.  Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features , 2011, neurogenetics.

[4]  Carl T Wittwer,et al.  High‐resolution DNA melting analysis: advancements and limitations , 2009, Human mutation.

[5]  P. Stankiewicz,et al.  Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder , 2009, neurogenetics.

[6]  J. Chelly,et al.  Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene , 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[7]  N. Boddaert,et al.  Key clinical features to identify girls with CDKL5 mutations. , 2008, Brain : a journal of neurology.

[8]  M. Fichera,et al.  CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy , 2008, Neurology.

[9]  J. Christodoulou,et al.  PRACTICAL GENETICS In association with Rett syndrome : new clinical and molecular insights , 2006 .

[10]  J. Tolmie,et al.  CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients , 2006, Journal of Medical Genetics.

[11]  J. Gécz,et al.  Early onset seizures and Rett-like features associated with mutations in CDKL5 , 2005, European Journal of Human Genetics.

[12]  A. Renieri,et al.  CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms , 2005, Journal of Medical Genetics.

[13]  J. Gécz,et al.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. , 2004, American journal of human genetics.

[14]  J. Gécz,et al.  Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. , 2004, American journal of human genetics.

[15]  Carl T Wittwer,et al.  High-resolution genotyping by amplicon melting analysis using LCGreen. , 2003, Clinical chemistry.

[16]  E. Haan,et al.  Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. , 2003, American journal of human genetics.

[17]  F. Hanefeld.  The clinical pattern of the rett syndrome , 1985, Brain and Development.

[18]  J. Chelly,et al.  An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain , 2011, Journal of Human Genetics.

[19]  E. Gaily,et al.  Epilepsy caused by CDKL5 mutations. , 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.