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Neurology. 2006 Sep 26;67(6):1094-5.

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

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  • 1Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, 5006 Australia. john.mulley@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.

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