Pediatric Neurology Briefs
Published 2008 | Version v1.0.0
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CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

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Abstract

Clinical and EEG data of 3 Italian boys (ages 3, 9, and 13 years) with severe early-onset encephalopathy, mental retardation, facial dysmorphisms, and intractable epilepsy were found to carry missense mutations in the CDKL5 gene, in a report from Troina, Italy.

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PNB-22-76-b

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Created
2008
When the item was originally created.