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Neurology. Genetics|August 6, 2026
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 EncephalopathyMatteo Lenge, Alice Dainelli, Simona Balestrini, et al.
Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Brain : a Journal of Neurology|March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic careFilomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Journal of Neuropathology and Experimental Neurology|December 4, 2020
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant EpilepsyVarshini Vasudevaraja, Javier Hernaez Rodriguez, Cristiana Pelorosso, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
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