Delnaz Roshandel, Eric J Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B Smith, Kaja K Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S Møller, Kheng Seang Lim, Khalid Hamandi, David A Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P Beier, Danielle M Andrade, Heinz Jungbluth, Mark P Richardson, Annalisa Pastore, Manolis Fanto, Deb K Pal, Lisa J Strug
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway analysis of impulsivity in JME (n = 381). Results were followed up with functional characterisation using a drosophila model. We identified genome-wide associated SNPs at 8q13.3 (P = 7.5 × 10-9 ) and 10p11.21 (P = 3...
September 28, 2023: NPJ Genomic Medicine