| Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. | |
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MedLine Citation:
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PMID: 21871821 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome). Neurological impairment in cases with mutations in the RAS/MAPK (mitogen activated protein kinase) signal pathway may be more severe, and could be linked to some forms of refractory epilepsy, especially epileptic encephalopathy that includes infantile spasms. |
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Authors:
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Masao Adachi; Yu Abe; Yoko Aoki; Yoichi Matsubara |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-24 |
Journal Detail:
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Title: Seizure : the journal of the British Epilepsy Association Volume: - ISSN: 1532-2688 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-29 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 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Pediatrics, Kakogawa Hospital Organization, Kakogawa West-City Hospital, 384-1 Hiratsu, Yoneda-cho, Kakogawa, Hyogo 675-8611, Japan. |
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