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Article

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

Journal of human genetics - 1 Feb 2022

Gafner Michal, Michelson Marina, Argilli Emanuela, Yosovich Keren, Sherr Elliott H, Parks Kendall C, England Eleina M, Hady-Cohen Ronen, Leibovitz Zvi, Lev Dorit, Michaeli-Yosef Yael, Lerman-Sagie Tally, Blumkin Lubov

Abstract excerpt

OBJECTIVE: BCORL1, a transcriptional co-repressor, has a role in cortical migration, neuronal differentiation, maturation, and cerebellar development. We describe BCORL1 as a new genetic cause for major brain malformations. METHODS AND RESULTS: We report three patients from two unrelated families with neonatal onset intractable epilepsy and profound global developmental delay. Brain MRI of two siblings from the...

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Identifiers

PMID: 34400773
DOI: 10.1038/s10038-021-00971-5
PMCID: PMC10256137

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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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