Aizeddin A.  Mhanni,Cheryl R.  Greenberg,Jessica N.  Hartley,Juan Pablo Appendino,Tyler  Peikes,
A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett
Genetics and Genomics
2020

http://dx.doi.org/10.31487/j.GG.2020.01.02
https://www.sciencerepository.org/a-case-series-and-review-of-cdkl5-deficiency-disorder_GG-2020-1-102 
Abstract: CDKL5 Deficiency Disorder (CDD) or CDKL5-associated epileptic encephalopathy (CAEE) is a distinct
X-linked dominant epileptic encephalopathy that shares many features with Rett syndrome. In the past
decade, mutations in CDKL5 gene were identified as part of the molecular heterogeneity of MECP2-
negative Rett syndrome. CDD has increasingly gained recognition as a distinct molecular and clinical
phenotype. Here we present four new patients with CDD: one with a clinical presentation of reflex seizures
previously reported as a case report by the same group, and three cases with novel disease-causing
mutations. The emerging distinct phenotype of CDD should allow the clinician to suspect the diagnosis
early and avoid a lengthy diagnostic odyssey.
Keywords:  CDKL5, Rett, epileptic encephalopathy, infantile seizures, microcephaly, spasms, CDD