| The evolving electroclinical syndrome of "epilepsy with ring chromosome 20" | |
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MedLine Citation:
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PMID: 22000954 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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PURPOSE: Ring chromosome 20 {r(20)} - manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r(20) lacks a specific phenotypic expression or dysmorphic features. Psychomotor development may be normal, making the diagnosis difficult unless there is a high index of suspicion. This description of further cases is intended to improve recognition of this syndrome. METHODS: Karyotyping for r(20) was done in patients presenting with cryptogenic refractory epilepsy suggestive of r(20) from August 2008 to September 2010. We identified three patients with r(20) associated with refractory epilepsy. All were investigated with long-term video EEG. Their unique electro clinical features; epilepsy syndrome and outcome are discussed and compared to the available literature. RESULTS: Karyotyping revealed ring 20 in 6-40% of lymphocytes. All manifested with seizures beginning at 2-10years of age. All had CPS; two had NCSE and one a seizure disorder resembling Lennox-Gastaut syndrome. The interictal EEG showed epileptiform abnormalities predominantly over the frontotemporal regions. Two patients had NCSE with generalized, frontally dominant theta and spike and wave discharges. None had facial dysmorphism or imaging abnormalities. They remained resistant to antiepileptic drugs. CONCLUSIONS: The use of routine karyotyping can easily pick up r(20); this information is especially useful in resource-poor countries. We have evolved an algorithm stating the indications to attempt r(20) karyotyping in a given patient in the light of the results of the present study and the existing literature. |
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Authors:
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Ashalatha Radhakrishnan; Ramshekhar N Menon; S Hariharan; Kurupath Radhakrishnan |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-14 |
Journal Detail:
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Title: Seizure : the journal of the British Epilepsy Association Volume: - ISSN: 1532-2688 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9306979 Medline TA: Seizure Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Ltd. |
Affiliation:
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R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, India. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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