Efficacy of ketogenic diet in CDKL5-related epilepsy: a single arm meta-analysis

[1] Tao J(2004)Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation Am J Hum Genet 75 1149-1154

[2] Van Esch H(2005)CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders Hum Mol Genet 14 3775-3786

[3] Hagedorn-Greiwe M(2012)CDKL5-related disorders: from clinical description to molecular genetics Mol Syndromol 2 137-152

[4] Lin C(2019)Cyclin-dependent kinase-like 5 deficiency disorder: clinical review Pediatr Neurol 97 18-25

[5] Franco B(2014)Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling Neurobiol Dis 70 53-68

[6] Rosner MR(2018)Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy Seizure 59 132-140

[7] Bahi-Buisson N(2018)Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders Epilepsia 59 1062-1071

[8] Bienvenu T(2012)Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations Pediatr Neurol 46 101-105

[9] Olson HE(2004)Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation Am J Hum Genet 75 1079-1093

[10] Demarest ST(2008)Key clinical features to identify girls with CDKL5 mutations Brain 131 2647-2661

[1] Tao J(2004)Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation Am J Hum Genet 75 1149-1154

[2] Van Esch H(2005)CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders Hum Mol Genet 14 3775-3786

[3] Hagedorn-Greiwe M(2012)CDKL5-related disorders: from clinical description to molecular genetics Mol Syndromol 2 137-152

[4] Lin C(2019)Cyclin-dependent kinase-like 5 deficiency disorder: clinical review Pediatr Neurol 97 18-25

[5] Franco B(2014)Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling Neurobiol Dis 70 53-68

[6] Rosner MR(2018)Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy Seizure 59 132-140

[7] Bahi-Buisson N(2018)Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders Epilepsia 59 1062-1071

[8] Bienvenu T(2012)Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations Pediatr Neurol 46 101-105

[9] Olson HE(2004)Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation Am J Hum Genet 75 1079-1093

[10] Demarest ST(2008)Key clinical features to identify girls with CDKL5 mutations Brain 131 2647-2661