Neuropediatrics 2007; 38(5): 253-256
DOI: 10.1055/s-2008-1062703
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Focal Epilepsy Resulting from a de novo SCN1A Mutation

A. Okumura 1 , 2 , H. Kurahashi 3 , 4 , S. Hirose 3 , N. Okawa 2 , K. Watanabe 5
  • 1Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan
  • 2Department of Pediatrics, Urayasu Ichikawa Municipal Hospitalm, Chiba, Japan
  • 3Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan
  • 4Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • 5Faculty of Medical Welfare, Aichi Shukutoku University, Nagoya, Japan
Further Information

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.

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

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