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Items: 1 to 50 of 93

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.

Earle NJ, Crawford J, Hayes I, Rees MI, French J, Stiles MK, Waddell-Smith KE, Donoghue T, Monkley R, Neas K, Aitken A, Tse R, Love DR, Skinner JR; Cardiac Inherited Diseases Group.

Am Heart J. 2018 Dec 19. pii: S0002-8703(18)30347-8. doi: 10.1016/j.ahj.2018.11.013. [Epub ahead of print]

PMID:
30686478
3.

Meningeal inflammation and cortical demyelination in acute multiple sclerosis.

Bevan RJ, Evans R, Griffiths L, Watkins LM, Rees MI, Magliozzi R, Allen I, McDonnell G, Kee R, Naughton M, Fitzgerald DC, Reynolds R, Neal JW, Howell OW.

Ann Neurol. 2018 Dec;84(6):829-842. doi: 10.1002/ana.25365. Epub 2018 Nov 30.

PMID:
30362156
4.

Tubulin genes and malformations of cortical development.

Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.

Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Review.

PMID:
30016746
5.

The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settings.

Sen A, Dugan P, Perucca P, Costello D, Choi H, Bazil C, Radtke R, Andrade D, Depondt C, Heavin S, Adcock J, Pickrell WO, McGinty RN, Nascimento F, Smith P, Rees MI, Kwan P, O'Brien TJ, Goldstein D, Delanty N.

Epilepsia. 2018 Jul;59(7):1410-1420. doi: 10.1111/epi.14436. Epub 2018 Jun 14.

PMID:
29901232
6.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D.

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129. No abstract available.

PMID:
29846532
7.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. No abstract available.

PMID:
29659731
8.

Educational attainment of children born to mothers with epilepsy.

Lacey AS, Pickrell WO, Thomas RH, Kerr MP, White CP, Rees MI.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):736-740. doi: 10.1136/jnnp-2017-317515. Epub 2018 Mar 27.

PMID:
29588327
9.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Piard J, Umanah GKE, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Mar 1;141(3):651-661. doi: 10.1093/brain/awx377.

PMID:
29390050
10.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT.

Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.

11.

Validating epilepsy diagnoses in routinely collected data.

Fonferko-Shadrach B, Lacey AS, White CP, Powell HWR, Sawhney IMS, Lyons RA, Smith PEM, Kerr MP, Rees MI, Pickrell WO.

Seizure. 2017 Nov;52:195-198. doi: 10.1016/j.seizure.2017.10.008. Epub 2017 Oct 13.

12.

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Masri A, Chung SK, Rees MI.

Brain Dev. 2017 Apr;39(4):306-311. doi: 10.1016/j.braindev.2016.10.010. Epub 2016 Nov 11.

PMID:
27843043
13.

Complement is activated in progressive multiple sclerosis cortical grey matter lesions.

Watkins LM, Neal JW, Loveless S, Michailidou I, Ramaglia V, Rees MI, Reynolds R, Robertson NP, Morgan BP, Howell OW.

J Neuroinflammation. 2016 Jun 22;13(1):161. doi: 10.1186/s12974-016-0611-x.

14.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung SK, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP.

BMC Med Genet. 2016 Apr 26;17(1):34. doi: 10.1186/s12881-016-0294-2.

15.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM.

EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep.

16.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.

Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.

17.

Epilepsy and deprivation, a data linkage study.

Pickrell WO, Lacey AS, Bodger OG, Demmler JC, Thomas RH, Lyons RA, Smith PE, Rees MI, Kerr MP.

Epilepsia. 2015 Apr;56(4):585-91. doi: 10.1111/epi.12942. Epub 2015 Mar 2.

18.

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

Hmami F, Wood SE, Chaouki S, Oulmaati A, Hida M, Rees MI, Chung SK, Bouharrou A.

Epileptic Disord. 2014 Sep;16(3):354-7. doi: 10.1684/epd.2014.0663.

19.

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI.

J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26.

PMID:
24970905
20.

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy.

Thomas RH, Walsh J, Church C, Sills GJ, Marson AG, Baker GA, Rees MI.

Epilepsy Behav. 2014 Jul;36:124-9. doi: 10.1016/j.yebeh.2014.04.027. Epub 2014 Jun 2.

PMID:
24938758
21.

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy.

Walsh J, Thomas RH, Church C, Rees MI, Marson AG, Baker GA.

Epilepsy Behav. 2014 Jun;35:72-7. doi: 10.1016/j.yebeh.2014.03.026. Epub 2014 May 13.

PMID:
24820514
22.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB.

Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009.

23.

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI.

Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7.

24.

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.

Pickrell WO, Lacey AS, Thomas RH, Lyons RA, Smith PE, Rees MI.

Seizure. 2014 Jan;23(1):77-80. doi: 10.1016/j.seizure.2013.09.007. Epub 2013 Sep 19.

25.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW.

J Biol Chem. 2013 Nov 22;288(47):33745-59. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9.

26.

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.

Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI.

Brain. 2013 Oct;136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11.

PMID:
24030948
27.

Flow-induced ATP release in patient-specific arterial geometries--a comparative study of computational models.

Boileau E, Bevan RL, Sazonov I, Rees MI, Nithiarasu P.

Int J Numer Method Biomed Eng. 2013 Oct;29(10):1038-56. doi: 10.1002/cnm.2581. Epub 2013 Jul 25. Review.

PMID:
23894050
28.

Ghrelin inhibits LPS-induced release of IL-6 from mouse dopaminergic neurones.

Beynon AL, Brown MR, Wright R, Rees MI, Sheldon IM, Davies JS.

J Neuroinflammation. 2013 Mar 19;10:40. doi: 10.1186/1742-2094-10-40.

29.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.

Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29.

PMID:
23361065
30.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ.

Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10.

31.

Weight change associated with antiepileptic drugs.

Pickrell WO, Lacey AS, Thomas RH, Smith PE, Rees MI.

J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):796-9. doi: 10.1136/jnnp-2012-303688. Epub 2012 Dec 12.

PMID:
23236017
32.

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.

Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Erratum in: Hum Mol Genet. 2013 Jun 15;22(12):2552. Longhardt, Ann-Carolyn [corrected to Longardt, Ann-Carolyn].

PMID:
23184146
33.

Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

Behrendt G, Baer K, Buffo A, Curtis MA, Faull RL, Rees MI, Götz M, Dimou L.

Glia. 2013 Feb;61(2):273-86. doi: 10.1002/glia.22432. Epub 2012 Oct 22.

34.

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

Thomas RH, Chung SK, Hamandi K, Rees MI, Kerr MP.

Epilepsy Behav. 2013 Mar;26(3):241-6. doi: 10.1016/j.yebeh.2012.09.006. Epub 2012 Oct 23. Review.

PMID:
23084878
35.

Next-generation sequencing. Preface.

Rees MI.

Adv Protein Chem Struct Biol. 2012;89:vii-ix. doi: 10.1016/B978-0-12-394287-6.09990-0. No abstract available.

PMID:
23046885
36.

Next generation sequencing methodologies--an overview.

Pickrell WO, Rees MI, Chung SK.

Adv Protein Chem Struct Biol. 2012;89:1-26. doi: 10.1016/B978-0-12-394287-6.00001-X. Review.

PMID:
23046880
37.

Hyperekplexia.

Tijssen MAJ, Rees MI.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jul 31 [updated 2012 Oct 4].

38.

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B.

J Biol Chem. 2012 Aug 17;287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29.

39.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.

J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.

40.

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes.

Thomas RH, Johnston JA, Hammond CL, Bagguley S, White C, Smith PE, Rees MI.

J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):336-8. doi: 10.1136/jnnp-2011-300405. Epub 2011 Dec 6.

PMID:
22147072
41.

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.

MacCormick JM, Crawford JR, Chung SK, Shelling AN, Evans CA, Rees MI, Smith WM, Crozier IG, McAlister H, Skinner JR.

Heart Lung Circ. 2011 Sep;20(9):593-8. doi: 10.1016/j.hlc.2011.04.036. Epub 2011 May 26.

PMID:
21616715
42.

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.

Gill JL, Capper D, Vanbellinghen JF, Chung SK, Higgins RJ, Rees MI, Shelton GD, Harvey RJ.

Neurobiol Dis. 2011 Jul;43(1):184-9. doi: 10.1016/j.nbd.2011.03.010. Epub 2011 Mar 17.

43.

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

Rice KS, Dickson G, Lane M, Crawford J, Chung SK, Rees MI, Shelling AN, Love DR, Skinner JR.

Heart Rhythm. 2011 Apr;8(4):551-4. doi: 10.1016/j.hrthm.2010.11.039. Epub 2010 Nov 30.

PMID:
21118729
44.

Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling.

Mullins JG, Chung SK, Rees MI.

Adv Protein Chem Struct Biol. 2010;80:117-52. doi: 10.1016/B978-0-12-381264-3.00004-7. Review.

PMID:
21109219
45.

Implications for families of advances in understanding the genetic basis of epilepsy.

Hammond CL, Thomas RH, Rees MI, Kerr MP, Rapport F.

Seizure. 2010 Dec;19(10):675-9. doi: 10.1016/j.seizure.2010.10.022. Epub 2010 Nov 20. Review.

46.

The genetics of epilepsy--the past, the present and future.

Rees MI.

Seizure. 2010 Dec;19(10):680-3. doi: 10.1016/j.seizure.2010.10.029. Epub 2010 Nov 20. Review.

47.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.

J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010.

48.

Identifying and prioritising epilepsy treatment uncertainties.

Thomas RH, Hammond CL, Bodger OG, Rees MI, Smith PE; members of WERN & James Lind Alliance.

J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):918-21. doi: 10.1136/jnnp.2009.192716. Epub 2010 Jun 18.

PMID:
20562408
49.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB.

Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12.

50.

The glycinergic system in human startle disease: a genetic screening approach.

Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI.

Front Mol Neurosci. 2010 Mar 23;3:8. doi: 10.3389/fnmol.2010.00008. eCollection 2010.

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