A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
case_series · Level IV
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Abstract
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.
Medical subject headings
- Epilepsies, Myoclonic
- Exons
- Gene Deletion
- Nerve Tissue Proteins
- Sodium Channels