Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association
Author:
Affiliation:
1. Department of Medical Genetics; Sanjay Gandhi Post Graduate Institute of Medical Sciences; Lucknow Uttar Pradesh India
2. Department of Radiodiagnosis; Sanjay Gandhi Post Graduate Institute of Medical Sciences; Lucknow Uttar Pradesh India
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36198/fullpdf
Reference13 articles.
1. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair;Aktas;Mol Cytogenet,2010
2. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum Genet,2012
3. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am J Hum Genet,2007
4. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene;Caliebe;Eur J Med Genet,2010
5. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome;Hill;Am J Med Genet Part A,2007
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1. A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures;BMC Medical Genomics;2023-01-09
2. Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review;Molecular Cytogenetics;2022-10-03
3. Hemiconvulsion–hemiplegia–epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association;International Journal of Developmental Neuroscience;2021-04-29
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5. The role of nuclear matrix protein HNRNPU in maintaining the architecture of 3D genome;Seminars in Cell & Developmental Biology;2019-06
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