Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Mirzaa, G. M.; Conti, V.; Timms, A. E.; Smyser, C. D.; Ahmed, S.; Carter, M.; Barnett, S.; Hufnagel, R. B.; Goldstein, A.; Narumi-Kishimoto, Y.; Olds, C.; Collins, S.; Johnston, K.; Deleuze, J. F.; Nitschke, P.; Friend, K.; Harris, C.; Goetsch, A.; Martin, B.; Boyle, E. A.; Parrini, E.; Mei, D.; Tattini, L.; Slavotinek, A.; Blair, E.; Barnett, C.; Shendure, J.; Chelly, J.; Dobyns, W. B.; Guerrini, R.

Lancet Neurol. 2015 Nov 2; 14(12):1182-95


BACKGROUND: Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. The causes of BPP are heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic causes of BPP and characterise their frequency in this population. METHODS: Children (aged

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