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Article

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.

Neurology - 3 Nov 2020

Lee Wei Shern, Stephenson Sarah E M, Pope Kate, Gillies Greta, Maixner Wirginia, Macdonald-Laurs Emma, MacGregor Duncan, D'Arcy Colleen, Jackson Graeme, Harvey A Simon, Leventer Richard J, Lockhart Paul J

Abstract excerpt

OBJECTIVE: To determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical malformation in which the imaging, electrophysiologic, and pathologic abnormalities are maximal at the bottom of sulcus, tapering to a normal gyral crown. METHODS: Targeted panel deep sequencing (>500×) was performed on paired blood and brain-derived genomic DNA from 20 operated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32847954
DOI: 10.1212/WNL.0000000000010670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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