Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient-Reference-Cited by-同舟云学术

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Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient

Published:2014-04-03 Issue:7 Volume:164 Page:1863-1866
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Allen Nicholas M.¹,Conroy Judith²³,Shahwan Amre¹,Ennis Sean²,Lynch Bryan¹,Lynch Sally A.²³,King Mary D.¹²

Affiliation:

1. Department of Child Neurology and Clinical Neurophysiology; Children's University Hospital; Dublin Ireland

2. Academic Centre on Rare Diseases, School of Medicine and Medical Science; University College; Dublin; Ireland

3. Department of Clinical Genetics; Children's University Hospital; Dublin Ireland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36532/fullpdf

Reference8 articles.

1. Reduced Chrna7 expression in mice is associated with decreases in hippocampal markers of inhibitory function: Implications for neuropsychiatric diseases;Adams;Neuroscience,2012

2. Identification of single gene deletions at 15q13.3: Further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype;Hoppman-Chaney;Clin Genet,2013

3. Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: Insights from a novel animal model of infantile spasms;Iacobas;J Neuroendocrinol,2013

4. De novo 15q13.3 microdeletion with cryptogenic West syndrome;Lacaze;Am J Med Genet A,2013

5. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies;Mefford;PloS Genet,2010

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient;Molecular Cytogenetics;2019-05-18

2. Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort;European Journal of Paediatric Neurology;2015-07

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