SCN1A testing for epilepsy: Application in clinical practice

S Hirose; IE Scheffer; C Marini; P De Jonghe; E Andermann; AM Goldman; M Kauffman; NCK Tan; DH Lowenstein; SM Sisodiya; R Ottman; SF Berkovic

Journal article

SCN1A testing for epilepsy: Application in clinical practice

S Hirose, IE Scheffer, C Marini, P De Jonghe, E Andermann, AM Goldman, M Kauffman, NCK Tan, DH Lowenstein, SM Sisodiya, R Ottman, SF Berkovic

Epilepsia | WILEY-BLACKWELL | Published : 2013

DOI: 10.1111/epi.12168

Abstract

This report is a practical reference guide for genetic testing of SCN1A, the gene encoding the α1 subunit of neuronal voltage-gated sodium channels (protein name: Nav1.1). Mutations in this gene are frequently found in Dravet syndrome (DS), and are sometimes found in genetic epilepsy with febrile seizures plus (GEFS+), migrating partial seizures of infancy (MPSI), other infantile epileptic encephalopathies, and rarely in infantile spasms. Recommendations for testing: (1) Testing is particularly useful for people with suspected DS and sometimes in other early onset infantile epileptic encephalopathies such as MPSI because genetic confirmation of the clinical diagnosis may allow optimization o..

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University of Melbourne Researchers

Ingrid Scheffer Author

Sam Berkovic Author

Related Projects (1)

NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

Grants

Awarded by Japan Society for the Promotion of Science

Funding Acknowledgements

We thank Dr. Christoph Lossin (US Davis, CA) for his valuable suggestions. This work was supported in part by the International League Against Epilepsy, a Grant-in-Aid for Scientific Research (A) 21249062, a Grant-in-Aid for for Challenging Exploratory Research 23659529, a Grant-in-Aid for Bilateral Joint Research Projects from Japan Society for the Promotion of Science (JSPS); Research Grants (21B-5) for Nervous and Mental Disorder, and Health and Labour Science Research Grant 21210301, KB220001 and Grant-in-aid for the Research on Measures for Intractable Diseases, No. H22-Nanji-Ippan-49 from the Ministry of Health, Labour and Welfare; Adaptable and Seamless Technology Transfer Program through Target-driven R&D (A-STEP) Exploratory Research, Japan Science and Technology Agency (JSP); and Research grant from the Japan Epilepsy Research Foundation. This report was written by experts selected by the International League Against Epilepsy (ILAE) and was approved for publication by the ILAE. Opinions expressed by the authors, however, do not necessarily represent official policy or position of the ILAE.