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Page 1
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: zaiwalla z. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
Davies B, Brown LA, Cais O, Watson J, Clayton AJ, Chang VT, Biggs D, Preece C, Hernandez-Pliego P, Krohn J, Bhomra A, Twigg SRF, Rimmer A, Kanapin A; WGS500 Consortium; Sen A, Zaiwalla Z, McVean G, Foster R, Donnelly P, Taylor JC, Blair E, Nutt D, Aricescu AR, Greger IH, Peirson SN, Flint J, Martin HC. Davies B, et al. Among authors: zaiwalla z. Hum Mol Genet. 2017 Oct 15;26(20):3869-3882. doi: 10.1093/hmg/ddx270. Hum Mol Genet. 2017. PMID: 29016847 Free PMC article.
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Anand G, et al. Among authors: zaiwalla z. Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21649651 Free article.
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
Anand G, Collett-White F, Orsini A, Thomas S, Jayapal S, Trump N, Zaiwalla Z, Jayawant S. Anand G, et al. Among authors: zaiwalla z. Eur J Paediatr Neurol. 2016 Sep;20(5):761-5. doi: 10.1016/j.ejpn.2016.04.015. Epub 2016 Apr 30. Eur J Paediatr Neurol. 2016. PMID: 27210545
Paediatric video-telemetry safety survey.
McAuley CF, Aylett S, Dunkley C, Zaiwalla Z, McShane T. McAuley CF, et al. Among authors: zaiwalla z. Arch Dis Child. 2012 Mar;97(3):298-9. doi: 10.1136/archdischild-2011-301293. Epub 2012 Jan 3. Arch Dis Child. 2012. PMID: 22215817 No abstract available.
Electroclinical outcome of children referred with suspected absence seizures.
Anand G, Padeniya A, Jain R, Hasan N, Jayawant S, Pike M, McShane T, Zaiwalla Z. Anand G, et al. Among authors: zaiwalla z. Arch Dis Child. 2011 Oct;96(10):987-8. doi: 10.1136/archdischild-2011-300531. Epub 2011 Sep 8. Arch Dis Child. 2011. PMID: 21908420 No abstract available.
Transcallosal resection of hypothalamic hamartoma for gelastic epilepsy.
Andrew M, Parr JR, Stacey R, Rosenfeld JV, Hart Y, Pretorius P, Nijhawan S, Zaiwalla Z, McShane MA. Andrew M, et al. Among authors: zaiwalla z. Childs Nerv Syst. 2008 Feb;24(2):275-9. doi: 10.1007/s00381-007-0448-9. Epub 2007 Sep 9. Childs Nerv Syst. 2008. PMID: 17828541
35 results