Article

Deficiency of cyclin-dependent kinase-like 5 causes spontaneous epileptic seizures in neonatal mice

2020-03-09

Abstract excerpt

Cyclin-dependent kinase-like 5 ( CDKL5 ), an X-linked gene encoding a serine-threonine kinase, is enriched in the mammalian forebrain and critical for neuronal maturation and synaptic function. Mutations in this gene cause CDKL5 deficiency disorder (CDD) that is characterized by early-onset epileptic seizures, autistic behaviors and intellectual disability. Although numerous CDD symptoms have been recapitulated i...

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Literature Corpus work: c1aa2186-1320-5386-a39a-e83a9f60d649
DOI: 10.1101/2020.03.09.983981

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