| Focal epilepsy resulting from a de novo SCN1A mutation. | |
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MedLine Citation:
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PMID: 18330841 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We found a DE NOVO missense mutation of the gene encoding the alpha1 subunit of the neuro-nal voltage-gated sodium channel, SCN1A, in a patient with repetitive focal seizures. At 5 months of age, the patient had a first seizure characterized by loss of consciousness and clonic convulsions in the left hand followed by secondary generalization lasting for 20 minutes in association with pyrexia. Although valproate was administered, she has had generalized seizures every month, mostly in association with elevated body temperature. Since 32 months of age, she also had a different type of seizure characterized by a fearful response followed by decreased consciousness, pallor, and salivation. Myoclonia or atypical absence seizures have never been observed until the last follow-up at 42 months of age. Genetic analysis showed a heterozygous missense mutation (c.5311A>T: I1771F) in the patient, which was not detected in her parents. |
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Authors:
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A Okumura; H Kurahashi; S Hirose; N Okawa; K Watanabe |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuropediatrics Volume: 38 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2008-03-11 Completed Date: 2008-06-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 253-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan. okumura@med.juntendo.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Developmental Disabilities
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diagnosis,
genetics Epilepsies, Partial / diagnosis, genetics* Epilepsy, Generalized / diagnosis, genetics Exanthema Subitum / diagnosis Female Humans Infant Infant, Newborn Mutation, Missense* Nerve Tissue Proteins / genetics* Pedigree Seizures, Febrile / diagnosis, genetics Sodium Channels / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Sodium Channels; 0/sodium channel, voltage-gated, type I, alpha protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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