Patient with Bilateral Periventricular Nodular Heterotopia and Polymicrogyria with Apparently Balanced Reciprocal Translocation T(1;6)(p12;p12.2) That Interrupts the Mannosidase Alpha, Class 1A, and Glutathione S-transferase A2 Genes
Overview
Authors
Affiliations
The Genetic Landscape of Polymicrogyria.
James J, Iype M, Surendran M, Anitha A, Thomas S Ann Indian Acad Neurol. 2022; 25(4):616-626.
PMID: 36211152 PMC: 9540929. DOI: 10.4103/aian.aian_97_22.
The epilepsy phenome/genome project.
Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A Clin Trials. 2013; 10(4):568-86.
PMID: 23818435 PMC: 5951634. DOI: 10.1177/1740774513484392.
Periventricular heterotopia in common microdeletion syndromes.
van Kogelenberg M, Ghedia S, McGillivray G, Bruno D, Leventer R, Macdermot K Mol Syndromol. 2010; 1(1):35-41.
PMID: 20648244 PMC: 2883850. DOI: 10.1159/000274491.
Andrade D Hum Genet. 2009; 126(1):173-93.
PMID: 19536565 DOI: 10.1007/s00439-009-0702-1.
Gomez-Garre P, Seijo M, Gutierrez-Delicado E, Castro del Rio M, de la Torre C, Gomez-Abad C J Med Genet. 2005; 43(3):232-7.
PMID: 15994863 PMC: 2563248. DOI: 10.1136/jmg.2004.029173.