Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

Abstract

We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, TGIF1 is expressed… (More)
DOI: 10.1159/000438502

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@article{Verrotti2015Deletion1I, title={Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.}, author={Alberto Verrotti and Chiara Palka and G. Prezioso and Melissa Alfonsi and Giuseppe Giulio Calabrese and Giandomenico Palka and Francesco G Chiarelli}, journal={Cytogenetic and genome research}, year={2015}, volume={146 2}, pages={115-9} }