X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder
Author:
Funder
National Institute of Neurological Disorders and Stroke
International Foundation for CDKL5 Research
Intellectual and Developmental Disabilities Research Center
Publisher
Elsevier BV
Subject
Neurology
Reference44 articles.
1. A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia;Akamine;Eur. J. Med. Genet.,2018
2. Mapping pathological phenotypes in a mouse model of CDKL5 disorder;Amendola;PLoS One,2014
3. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients;Archer;J. Med. Genet.,2006
4. CDKL5-related disorders: from clinical description to molecular genetics;Bahi-Buisson;Mol. Syndromol.,2012
5. The three stages of epilepsy in patients with CDKL5 mutations;Bahi-Buisson;Epilepsia.,2008
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