Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

doi:10.1093/brain/awab376

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Article

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Brain : a journal of neurology - 29 Apr 2022

Pirozzi Filomena, Berkseth Matthew, Shear Rylee, Gonzalez Lorenzo, Timms Andrew E, Sulc Josef, Pao Emily, Oyama Nora, Forzano Francesca, Conti Valerio, Guerrini Renzo, Doherty Emily S, Saitta Sulagna C, Lockwood Christina M, Pritchard Colin C, Dobyns William B, Novotny Edward, Wright Jason N N, Saneto Russell P, Friedman Seth, Hauptman Jason, Ojemann Jeffrey, Kapur Raj P, Mirzaa Ghayda M

Abstract excerpt

Focal malformations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and architectural dysplasia, intractable epilepsy, autism and intellectual disability. Importantly, focal cortical dysplasia is the most common cause of focal intractable paediatric epilepsy. Gain and loss...

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PMID: 35355055
DOI: 10.1093/brain/awab376
PMCID: PMC9630661

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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