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A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

From Department of Genetic Medicine (J.C.M., P.N., L.D., X.I., L.H., S.Y.), Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Molecular and Biomedical Sciences (J.C.M.), and Department of Paediatrics (L.D.,L.H.), The University of Adelaide, South Australia, Australia; MRC-Holland (S.G., J.S.), Amsterdam, The Netherlands; Epilepsy Research Centre and Department of Medicine (S.F.B, I.E.S), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; and Department of Paediatrics (I.E.S.), Royal Children's Hospital, Melbourne, Australia.

Address correspondence and reprint requests to Dr. John C. Mulley, Department of Genetic Medicine, 72 King William Road, North Adelaide, South Australia, 5006 Australia; e-mail: john.mulley{at}cywhs.sa.gov.au

We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.

Supported by grants from the NH&MRC and Bionomics Ltd., reagent development costs were funded by MRC-Holland, and Thyne-Reid Charitable Trusts donated the denaturing high-performance liquid chromatography equipment.

Disclosure: S.F. Berkovic, I.E. Scheffer, and J.C. Mulley have received research support and honoraria from Bionomics Ltd. exceeding $10,000. Bionomics Ltd. has licensed a diagnostic test for SCN1A mutations. J. Schouten is a major stockholder of MRC-Holland exceeding $10,000, which produces the MLPA mutation detection reagents developed for this study. S. Guerrero is an employee of MRC-Holland. All other authors report no conflicts of interest.

Received March 16, 2006. Accepted in final form May 24, 2006.

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