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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.
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.
Efficacy of cognitive behavioural therapy for sleep improvement in patients with persistent delusions and hallucinations (BEST): a prospective, assessor-blind, randomised controlled pilot trial.
Freeman D, Waite F, Startup H, Myers E, Lister R, McInerney J, Harvey AG, Geddes J, Zaiwalla Z, Luengo-Fernandez R, Foster R, Clifton L, Yu LM. Freeman D, et al. Among authors: zaiwalla z. Lancet Psychiatry. 2015 Nov;2(11):975-83. doi: 10.1016/S2215-0366(15)00314-4. Epub 2015 Sep 9. Lancet Psychiatry. 2015. PMID: 26363701 Free PMC article. Clinical Trial.
Weighted blankets and sleep in autistic children--a randomized controlled trial.
Gringras P, Green D, Wright B, Rush C, Sparrowhawk M, Pratt K, Allgar V, Hooke N, Moore D, Zaiwalla Z, Wiggs L. Gringras P, et al. Among authors: zaiwalla z. Pediatrics. 2014 Aug;134(2):298-306. doi: 10.1542/peds.2013-4285. Epub 2014 Jul 14. Pediatrics. 2014. PMID: 25022743 Clinical Trial.
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.
35 results