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Article

Epilepsy features in ARID1B‐related Coffin‐Siris syndrome

1 Dec 2021

Abstract excerpt

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B-related CSS, focusing on epilepsy...

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PMID: 34730517
DOI: 10.1684/epd.2021.1356

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