article = {GG-2020-1-102}
title = {A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett}
journal = {Genetics and Genomics}
year = {2020}
issn = {}
doi = {http://dx.doi.org/10.31487/j.GG.2020.01.02}
url = {https://www.sciencerepository.org/a-case-series-and-review-of-cdkl5-deficiency-disorder_GG-2020-1-102 
author = {Aizeddin A.  Mhanni,Cheryl R.  Greenberg,Jessica N.  Hartley,Juan Pablo Appendino,Tyler  Peikes,}
keywords = { CDKL5, Rett, epileptic encephalopathy, infantile seizures, microcephaly, spasms, CDD}
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.
}