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Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion
Author(s) -
Milone Roberta,
Valetto Angelo,
Bertini Veronica,
Sicca Federico
Publication year - 2017
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2017.0909
Subject(s) - autism , intellectual disability , copy number variation , epilepsy , neurology , pediatrics , developmental disorder , medicine , psychology , genetics , psychiatry , gene , biology , genome
Benign infantile seizures (BIS) are usually a self‐limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long‐term clinical follow‐up.