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Article

Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.

Experimental neurology - 1 Oct 2020

Mulcahey Patrick J, Tang Sheng, Takano Hajime, White Alicia, Davila Portillo Dayana R, Kane Owen M, Marsh Eric D, Zhou Zhaolan, Coulter Douglas A

Abstract excerpt

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...

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Identifiers

PMID: 32585155
DOI: 10.1016/j.expneurol.2020.113388
PMCID: PMC8855336

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