Germline and mosaic mutations of <i>FLN1</i> in men with periventricular heterotopia

2004154 citationsJournal Article

Authors

Renzo Guerrini · Fondazione Stella Maris

Davide Mei · Fondazione Stella Maris

S. M. Sisodiya · Fondazione Stella Maris

Federico Sicca · Fondazione Stella Maris

Brian Harding · Fondazione Stella Maris

Yukitoshi Takahashi · Fondazione Stella Maris

Thomas Dorn ·

Abstract

Periventricular nodular heterotopia caused by FLN1 mutations in men has a wide clinical spectrum and is caused by different genetic mechanisms, including somatic mosaicism. Mutation analysis of FLN1 should support genetic counseling in men with periventricular nodular heterotopia.

Topics & Keywords

Fetal and Pediatric Neurological Disorders Spinal Dysraphism and Malformations Tumors and Oncological Cases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neurology

Volume 63, Issue 1, pp. 51-56

DOI: 10.1212/01.wnl.0000132818.84827.4d

Field-Weighted Citation Impact: 15.40