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10 in total

1. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Authors: Stephanie Fehr; Meredith Wilson; Jenny Downs; Simon Williams; Alessandra Murgia; Stefano Sartori; Marilena Vecchi; Gladys Ho; Roberta Polli; Stavroula Psoni; Xinhua Bao; Nick de Klerk; Helen Leonard; John Christodoulou
Journal: Eur J Hum Genet Date: 2012-08-08 Impact factor: 4.246

Review 2. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Authors: Heather E Olson; Scott T Demarest; Elia M Pestana-Knight; Lindsay C Swanson; Sumaiya Iqbal; Dennis Lal; Helen Leonard; J Helen Cross; Orrin Devinsky; Tim A Benke
Journal: Pediatr Neurol Date: 2019-02-23 Impact factor: 3.372

Review 3. Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Authors: Hao Deng; Wen Zheng; Zhi Song
Journal: Mol Neurobiol Date: 2013-11-22 Impact factor: 5.590

4. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

Authors: Juliette Nectoux; Yann Fichou; Nicolas Cagnard; Nadia Bahi-Buisson; Patrick Nusbaum; Franck Letourneur; Jamel Chelly; Thierry Bienvenu
Journal: J Mol Med (Berl) Date: 2010-11-24 Impact factor: 4.599

5. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Authors: N Bahi-Buisson; T Bienvenu
Journal: Mol Syndromol Date: 2011-09-13

6. CDKL5 and ARX mutations in males with early-onset epilepsy.

Authors: Ghayda M Mirzaa; Alex R Paciorkowski; Eric D Marsh; Elizabeth M Berry-Kravis; Livija Medne; Asem Alkhateeb; Art Grix; Elaine C Wirrell; Berkley R Powell; Katherine C Nickels; Barbara Burton; Andrea Paras; Katherine Kim; Wendy Chung; William B Dobyns; Soma Das
Journal: Pediatr Neurol Date: 2013-05 Impact factor: 3.372

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

1. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Review 2. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Review 3. Genetics, molecular biology, and phenotypes of x-linked epilepsy.

4. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

5. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

6. CDKL5 and ARX mutations in males with early-onset epilepsy.

7. There is variability in the attainment of developmental milestones in the CDKL5 disorder.

8. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

Review 9. Recent advances in understanding synaptic abnormalities in Rett syndrome.

10. Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.