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Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
Author(s) -
Møller Rikke S.,
Schneider Lizette M.,
Hansen Christian P.,
Bugge Merete,
Ullmann Reinhard,
Tommerup Niels,
Tümer Zeynep
Publication year - 2008
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2008.01550.x
Subject(s) - myoclonic epilepsy , chromosomal translocation , epilepsy , breakpoint , medicine , point mutation , genetics , dravet syndrome , mutation , biology , gene , bioinformatics , psychiatry
SummaryIn a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements.