Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
Publication/Presentation Date
10-1-2020
Abstract
CDKL5 deficiency disorder (CDD) is a devastating neurodevelopmental disorder characterized by early-onset epilepsy, severe intellectual disability, cortical visual impairment and motor disabilities. Epilepsy is a central feature of CDD, with most patients having intractable seizures, but seizure frequency and severity can vary. Clinical reports demonstrate a diversity in seizure semiology and electrographic features, with no pattern diagnostic of CDD. Although animal models of CDD have shown evidence of hyperexcitability, spontaneous seizures have not been previously reported. Here, we present the first systematic study of spontaneous seizures in mouse models of CDD. Epileptic spasms, the most frequent and persistent seizure type in CDD patients, were recapitulated in two mouse models of CDD carrying heterozygous mutations, Cdkl5
Volume
332
First Page
113388
Last Page
113388
ISSN
1090-2430
Published In/Presented At
Mulcahey, P. J., Tang, S., Takano, H., White, A., Davila Portillo, D. R., Kane, O. M., Marsh, E. D., Zhou, Z., & Coulter, D. A. (2020). Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms. Experimental neurology, 332, 113388. https://doi.org/10.1016/j.expneurol.2020.113388
Disciplines
Medicine and Health Sciences
PubMedID
32585155
Department(s)
Fellows and Residents
Document Type
Article