CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

J Gordon Millichap

doi:10.15844/pedneurbriefs-22-10-5

CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

Pediatric Neurology Briefs

Volume 22 (2008): Issue 10

By: J Gordon Millichap

Open Access

|Oct 2008

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.

References

Elia M Falco M Ferri R Spalletta A Bottitta M Calabrese G CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 2008 Sep 23 71 13 997 9 10.1212/01.wnl.0000326592.37105.88 18809835
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Arnedo V Kuzniecky R Advances in epilepsy. Highlights from the 60th annual meeting of the American Epilepsy Society, December 1-5, 2006, San Diego, CA Rev Neurol Dis 2007 Fall 4 4 217 21 18195677
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Scheffer IE Wallace R Mulley JC Berkovic SF Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome) Brain Dev 2001 Nov 23 7 732 5 11701287
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-22-10-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 76 - 77

Published on: Oct 1, 2008

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Facial Dysmorphisms,

Pseudoperiodic Bisynchronous,

Antiepileptic Drugs

© 2008 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 22 (2008): Issue 10