Article
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Genetic testing and molecular biomarkers - 1 Oct 2017
Neupauerová Jana, Štěrbová Katalin, Vlčková Markéta, Sebroňová Věra, Maříková Tat'ána, Krůtová Marcela, David Staněk, Kršek Pavel, Žaliová Markéta, Seeman Pavel, Laššuthová Petra
Abstract excerpt
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a...
Topics
Join the communities discussing this publication.