Premium
Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene
Author(s) -
Verbeek Nienke E.,
van Kempen Marjan,
Gunning W. Boudewijn,
Renier Willy O.,
Westland Birgit,
Lindhout Dick,
Brilstra Eva H.
Publication year - 2011
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.1528-1167.2011.02982.x
Subject(s) - dravet syndrome , medicine , clinical neurology , epilepsy , pediatrics , neuroscience , psychology , psychiatry
Summary Most patients with Dravet syndrome have de novo mutations in the neuronal voltage‐gated sodium channel type 1 ( SCN1A ) gene. We report on two unrelated fathers with severe childhood epilepsy compatible with a possible diagnosis of Dravet syndrome, who both have a child with Dravet syndrome. Analysis of the SCN1A gene revealed a pathogenic mutation in both children. One father exhibited somatic mosaicism for the mutation detected in his son. A relatively favorable cognitive outcome in patients with Dravet syndrome patients may be explained by somatic mosaicism for the SCN1A mutation in brain tissue. A mild form of Dravet syndrome in adult patients is associated with a high recurrence risk and possibly a more severe epilepsy phenotype in their offspring.