Journal
EPILEPSY RESEARCH
Volume 99, Issue 1-2, Pages 28-37Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.eplepsyres.2011.10.014
Keywords
Dravet syndrome; Epilepsy and mental retardation limited to females; Genetic; Phenotype; SCN1A
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Funding
- Japan Society for the Promotion of Science (JSPS) [21249062, 22791011]
- Ministry of Education, Culture, Sports, Science and Technology
- The Research Center for the Molecular Pathomechanisms of Epilepsy, Fukuoka University
- Ministry of Health, Labor and Welfare [21210301, KB220001]
- Japan Science and Technology Agency (JSP)
- Japan Epilepsy Research Foundation
- Grants-in-Aid for Scientific Research [23659529, 23591488, 21249062, 22791011] Funding Source: KAKEN
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Purpose: To determine the significance of PCDH19 mutations in Japanese females with epilepsy and to delineate their phenotypes. Methods: PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). They were referred for SCN1A analysis, and 52 carried SCN1A mutations. Results: Seven heterozygous mutations in exon 1 were identified in 7 patients (6.0%): 2 frameshift, 2 nonsense, and 3 missense mutations. One patient was a monozygotic twin, and her sister with mild phenotype carried the same mutation. The main clinical features among these 8 patients included early seizure onset (<= 25 months of age), seizure clusters (7/8), fever-associated seizures (7/8), single seizure type (6/8), and late deterioration of intellect (5/8). Seizure durations were generally up to a few minutes, and only one patient developed status epilepticus once. The main seizure types were generalized tonic clonic (4/8), tonic (3/8) and focal seizures, with (2/8) or without secondary generalization (3/8). Myoclonic, atonic and absence seizures were extremely rare. Two patients had Dravet syndrome (25%), and this proportion was significantly smaller than that in the total subjects (p < 0.01). Conclusion: PCDH19 mutation is a relatively frequent cause of epilepsy in Japanese females. Dravet syndrome was rare in our cohort. (C) 2011 Elsevier B.V. All rights reserved.
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