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1998 1
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2009 1
2010 1
2011 2
2012 1
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2015 2
2016 1
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26 results

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Page 1
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Odgis JA, et al. Am J Med Genet A. 2023 Mar;191(3):699-710. doi: 10.1002/ajmg.a.63062. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36563179 Free PMC article.
In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion of ARFGAP1, EEF1A2, CHRNA4, and KCNQ2. All patients were enrolled in the NYCKidSeq study, a research program studying the communicat …
In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion …
Epilepsy and the new cytogenetics.
Mulley JC, Mefford HC. Mulley JC, et al. Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 2011 Jan 26. Epilepsia. 2011. PMID: 21269290 Free PMC article. Review.
Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for geno …
Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively …
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.
Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A. Elghezal H, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):441-5. doi: 10.1016/j.ejmg.2007.07.002. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17851150
Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any deletion in the ring chromosome 20. Clinical symptoms of r(20) syndrome are attributed to telomeric partial monosomy generated by ring …
Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any d …
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.
Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S. Kurahashi H, et al. Neurology. 2009 Oct 13;73(15):1214-7. doi: 10.1212/WNL.0b013e3181bc0158. Neurology. 2009. PMID: 19822871
OBJECTIVE: Mutations of the genes encoding subunits of potassium voltage-gated channel, KCNQ2 and KCNQ3, have been identified in patients with benign familial neonatal seizures (BFNS). ...CONCLUSIONS: Our findings indicate that the clinical courses of patients with deletio …
OBJECTIVE: Mutations of the genes encoding subunits of potassium voltage-gated channel, KCNQ2 and KCNQ3, have been identified in pati …
The variable phenotypes of KCNQ-related epilepsy.
Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD. Allen NM, et al. Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22. Epilepsia. 2014. PMID: 25052858 Free article.
Mutations in KCNQ2 and KCNQ3 were originally described in infants with benign familial neonatal seizures (BFNS). Recently, KCNQ2 mutations have also been shown to cause epileptic encephalopathy. ...
Mutations in KCNQ2 and KCNQ3 were originally described in infants with benign familial neonatal seizures (BFNS). Recently, KCNQ2 …
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.
Okumura A, Atsushi Ishii, Shimojima K, Kurahashi H, Yoshitomi S, lmai K, Imamura M, Seki Y, Toshiaki Shimizu T, Hirose S, Yamamoto T. Okumura A, et al. Epileptic Disord. 2015 Jun;17(2):165-71. doi: 10.1684/epd.2015.0746. Epileptic Disord. 2015. PMID: 26030193 Free article.
Developmental outcome was good in two patients with deletion restricted to three genes (CHRNA4, KCNQ2, and COL20A1), whereas delay in developmental milestones was observed in the other two with a wider range of deletion. Information obtained from array comparative genomic …
Developmental outcome was good in two patients with deletion restricted to three genes (CHRNA4, KCNQ2, and COL20A1), whereas delay in …
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB, Lindy AS, Butler E, Retterer K, Piccirillo-Stosser CM, Richard G, McKnight DA. Stosser MB, et al. Genet Med. 2018 Apr;20(4):403-410. doi: 10.1038/gim.2017.114. Epub 2017 Aug 24. Genet Med. 2018. PMID: 28837158 Free PMC article.
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilep …
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epileps …
Channelopathies as a genetic cause of epilepsy.
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.
Parental mosaicism in de novo neurodevelopmental diseases.
Shu L, Zhang Q, Tian Q, Yang S, Peng X, Mao X, Yang L, Du J, Wang H. Shu L, et al. Am J Med Genet A. 2021 Jul;185(7):2119-2125. doi: 10.1002/ajmg.a.62174. Epub 2021 Apr 14. Am J Med Genet A. 2021. PMID: 33851778
26 results