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

doi:10.1016/S1474-4422(15)00278-1

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Article

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

The Lancet. Neurology - 1 Dec 2015

Mirzaa Ghayda M, Conti Valerio, Timms Andrew E, Smyser Christopher D, Ahmed Sarah, Carter Melissa, Barnett Sarah, Hufnagel Robert B, Goldstein Amy, Narumi-Kishimoto Yoko, Olds Carissa, Collins Sarah, Johnston Kathreen, Deleuze Jean-François, Nitschké Patrick, Friend Kathryn, Harris Catharine, Goetsch Allison, Martin Beth, Boyle Evan August, Parrini Elena, Mei Davide, Tattini Lorenzo, Slavotinek Anne, Blair Ed, Barnett Christopher, Shendure Jay, Chelly Jamel, Dobyns William B, Guerrini Renzo

Abstract excerpt

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...

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PMID: 26520804
DOI: 10.1016/S1474-4422(15)00278-1
PMCID: PMC4672724

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