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DOI: 10.1055/s-2008-1062703
© Georg Thieme Verlag KG Stuttgart · New York
Focal Epilepsy Resulting from a de novo SCN1A Mutation
Publication History
received 03.07.2007
accepted 19.01.2008
Publication Date:
10 March 2008 (online)
Abstract
We found a de novo missense mutation of the gene encoding the α1 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.
Key words
SCN1A - focal epilepsy - genotype-phenotype correlation
References
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Correspondence
A. OkumuraMD
Department of Pediatrics
Juntendo University
School of Medicine
2-1-1 Hongo
Bunkyo-ku
Tokyo 113-8421
Japan
Phone: +81/3/3813 31 11
Fax: +81/3/5800 15 80
Email: okumura@med.juntendo.ac.jp