| CDKL5 Mutations as a Cause of Severe Epilepsy in Infancy: Clinical and Electroencephalographic Long-term Course in 4 Patients. | |
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MedLine Citation:
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PMID: 22832775 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes. |
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Authors:
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Johanna Jähn; Almuth Caliebe; Sarah von Spiczak; Rainer Boor; Irina Stefanova; Ulrich Stephani; Ingo Helbig; Hiltrud Muhle |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-7-25 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-7-26 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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