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Items: 1 to 50 of 241

1.

A tiered strategy for investigating status epilepticus.

Craig DP, Mitchell TN, Thomas RH.

Seizure. 2019 Oct 22. pii: S1059-1311(19)30205-5. doi: 10.1016/j.seizure.2019.10.004. [Epub ahead of print]

PMID:
31706706
2.

The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence.

Ellis CA, Berkovic SF, Epstein MP, Ottman R; Epi4K Consortium.

Ann Neurol. 2019 Oct 21. doi: 10.1002/ana.25625. [Epub ahead of print]

PMID:
31637767
3.

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.

Epi4K Consortium.

Epilepsia. 2019 Nov;60(11):2194-2203. doi: 10.1111/epi.16354. Epub 2019 Oct 17.

PMID:
31625138
4.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0. [Epub ahead of print]

PMID:
31578471
5.

Learnings from deaths - the Epilepsy Deaths Register.

Thomas RH, Osland K.

Epilepsy Behav. 2019 Aug 17:106454. doi: 10.1016/j.yebeh.2019.106454. [Epub ahead of print] Review.

PMID:
31431398
6.

Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.

Lad M, Thomas RH, Anderson K, Griffiths TD.

Pract Neurol. 2019 Oct;19(5):420-423. doi: 10.1136/practneurol-2019-002236. Epub 2019 Jun 26.

7.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project.

N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. No abstract available.

PMID:
30995385
8.

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders.

Eaton CB, Thomas RH, Hamandi K, Payne GC, Kerr MP, Linden DEJ, Owen MJ, Cunningham AC, Bartsch U, Struik SS, van den Bree MBM.

Epilepsia. 2019 May;60(5):818-829. doi: 10.1111/epi.14722. Epub 2019 Apr 11.

9.

Genetic chameleons: remember the relapsing disorders.

Thomas RH, Thomas NJP.

Pract Neurol. 2019 Aug;19(4):282-283. doi: 10.1136/practneurol-2018-002181. Epub 2019 Apr 4. No abstract available.

PMID:
30948557
10.

Targeting Modified Lipids during Routine Lipidomics Analysis using HILIC and C30 Reverse Phase Liquid Chromatography coupled to Mass Spectrometry.

Pham TH, Zaeem M, Fillier TA, Nadeem M, Vidal NP, Manful C, Cheema S, Cheema M, Thomas RH.

Sci Rep. 2019 Mar 25;9(1):5048. doi: 10.1038/s41598-019-41556-9.

11.

Letter to the Editor: Sentinel lymph node biopsy in melanoma: Which hot nodes should be harvested and is blue dye really necessary?

Gilmour A, Thomas RH, Critchley AC.

J Plast Reconstr Aesthet Surg. 2019 Apr;72(4):685-710. doi: 10.1016/j.bjps.2019.01.030. Epub 2019 Feb 14. No abstract available.

PMID:
30797740
12.

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 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8.

13.

Moose and Caribou as Novel Sources of Functional Lipids: Fatty Acid Esters of Hydroxy Fatty Acids, Diglycerides and Monoacetyldiglycerides.

Pham TH, Vidal NP, Manful CF, Fillier TA, Pumphrey RP, Doody KM, Thomas RH.

Molecules. 2019 Jan 10;24(2). pii: E232. doi: 10.3390/molecules24020232.

14.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM.

Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9.

15.

Cannabis and epilepsy.

Thomas RH, Cunningham MO.

Pract Neurol. 2018 Dec;18(6):465-471. doi: 10.1136/practneurol-2018-002058. Epub 2018 Oct 18. Review.

PMID:
30337476
16.

The Effects of Cold Saponification on the Unsaponified Fatty Acid Composition and Sensory Perception of Commercial Natural Herbal Soaps.

Prieto Vidal N, Adeseun Adigun O, Pham TH, Mumtaz A, Manful C, Callahan G, Stewart P, Keough D, Thomas RH.

Molecules. 2018 Sep 14;23(9). pii: E2356. doi: 10.3390/molecules23092356.

17.

Early segmentation in the mite Archegozetes longisetosus reveals conserved and derived aspects of chelicerate development.

Barnett AA, Thomas RH.

Dev Genes Evol. 2018 Sep;228(5):213-217. doi: 10.1007/s00427-018-0615-x. Epub 2018 Jul 10.

PMID:
29987414
18.

Complement system biomarkers in epilepsy.

Kopczynska M, Zelek WM, Vespa S, Touchard S, Wardle M, Loveless S, Thomas RH, Hamandi K, Morgan BP.

Seizure. 2018 Aug;60:1-7. doi: 10.1016/j.seizure.2018.05.016. Epub 2018 May 24.

19.

Need for improved public health protection of young people wanting body piercing: evidence from a look-back exercise at a piercing and tattooing premises with poor hygiene practices, Wales (UK) 2015.

Perry M, Lewis H, Thomas DR, Mason B, Richardson G.

Epidemiol Infect. 2018 Jul;146(9):1177-1183. doi: 10.1017/S0950268818001024. Epub 2018 Apr 30.

PMID:
29708089
20.

Valproate: life-saving, life-changing.

Thomas RH.

Clin Med (Lond). 2018 Apr 1;18(Suppl 2):s1-s8. doi: 10.7861/clinmedicine.18-2-s1. Review.

21.

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
22.

Chemical composition of kale as influenced by dry vermicast, potassium humate and volcanic minerals.

Abbey L, Pham TH, Annan N, Leke-Aladekoba A, Thomas RH.

Food Res Int. 2018 May;107:726-737. doi: 10.1016/j.foodres.2018.03.010. Epub 2018 Mar 7.

PMID:
29580540
23.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Wiest R, Zhang J, Vezzani A, Ryten M, Thompson PM, Sisodiya SM.

Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341.

24.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

25.

Gamification of Medication Adherence in Epilepsy.

Abdul Rahim MI, Thomas RH.

Seizure. 2017 Nov;52:11-14. doi: 10.1016/j.seizure.2017.09.008. Epub 2017 Sep 14. Review.

26.

Epilepsy treatment priorities: answering the questions that matter.

Hughes EG, Thomas RH.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):999-1001. doi: 10.1136/jnnp-2016-315135. Epub 2017 Jun 1. No abstract available.

PMID:
28572278
27.

On the road again: assessing driving ability in patients with neurological conditions.

Handley JD, Thomas RH, McKenna P, Hughes TAT.

Pract Neurol. 2017 Jun;17(3):203-206. doi: 10.1136/practneurol-2017-001601. Epub 2017 May 4. Review.

PMID:
28473607
28.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Epi4K consortium; Epilepsy Phenome/Genome Project.

Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.

PMID:
28102150
29.

What can rare variant genetics tell us about cognition and intellectual difficulties?

Thomas RH, Robertson NP.

J Neurol. 2016 Dec;263(12):2565-2566. No abstract available.

30.

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Strehlow V, Swinkels ME, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR.

Mol Syndromol. 2016 Sep;7(4):239-246. Epub 2016 Aug 24.

31.

Sudden death in epilepsy: Insights from the last 25 years.

Jones LA, Thomas RH.

Seizure. 2017 Jan;44:232-236. doi: 10.1016/j.seizure.2016.10.002. Epub 2016 Oct 14. Review.

32.

Gene expression profiling of the astrocyte transcriptome in multiple sclerosis normal appearing white matter reveals a neuroprotective role.

Waller R, Woodroofe MN, Wharton SB, Ince PG, Francese S, Heath PR, Cudzich-Madry A, Thomas RH, Rounding N, Sharrack B, Simpson JE.

J Neuroimmunol. 2016 Oct 15;299:139-146. doi: 10.1016/j.jneuroim.2016.09.010. Epub 2016 Sep 14.

33.

The consequences of valproate exposure in utero.

Thomas RH, Robertson NP.

J Neurol. 2016 Sep;263(9):1887-9. doi: 10.1007/s00415-016-8269-y. No abstract available.

34.

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.

35.

Cluster of atypical adult Guillain-Barré syndrome temporally associated with neurological illness due to EV-D68 in children, South Wales, United Kingdom, October 2015 to January 2016.

Williams CJ, Thomas RH, Pickersgill TP, Lyons M, Lowe G, Stiff RE, Moore C, Jones R, Howe R, Brunt H, Ashman A, Mason BW.

Euro Surveill. 2016;21(4). doi: 10.2807/1560-7917.ES.2016.21.4.30119.

36.

An axillofemoral bypass graft transgressing the chest wall.

Levena Skervin A, Thomas RH, Sritharan K.

Clin Case Rep. 2015 Nov 11;4(1):32-4. doi: 10.1002/ccr3.386. eCollection 2016 Jan.

37.

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.

38.

Epilepsy and bipolar disorder.

Knott S, Forty L, Craddock N, Thomas RH.

Epilepsy Behav. 2015 Nov;52(Pt A):267-74. doi: 10.1016/j.yebeh.2015.07.003. Epub 2015 Aug 25. Review.

PMID:
26316422
39.

Testing new treatments for paediatric epilepsies.

Thomas RH, Robertson NP.

J Neurol. 2015 Aug;262(8):1996-8. doi: 10.1007/s00415-015-7857-6. No abstract available.

PMID:
26194200
40.

Current and emerging treatments for irritable bowel syndrome with constipation and chronic idiopathic constipation: focus on prosecretory agents.

Thomas RH, Luthin DR.

Pharmacotherapy. 2015 Jun;35(6):613-30. doi: 10.1002/phar.1594. Epub 2015 May 27. Review.

PMID:
26016701
41.

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.

42.

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE; EuroEPINOMICS RES Consortium.

Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.

43.

Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis.

Caeyenberghs K, Powell HW, Thomas RH, Brindley L, Church C, Evans J, Muthukumaraswamy SD, Jones DK, Hamandi K.

Neuroimage Clin. 2014 Nov 27;7:98-104. doi: 10.1016/j.nicl.2014.11.018. eCollection 2015.

44.

The impact of the media on the decision of parents in South Wales to accept measles-mumps-rubella (MMR) immunization.

Walsh S, Thomas DR, Mason BW, Evans MR.

Epidemiol Infect. 2015 Feb;143(3):550-60. doi: 10.1017/S0950268814000752.

PMID:
25600667
45.

Oral disease-modifying therapies for relapsing-remitting multiple sclerosis.

Thomas RH, Wakefield RA.

Am J Health Syst Pharm. 2015 Jan 1;72(1):25-38. doi: 10.2146/ajhp140023. Review.

PMID:
25511835
46.

Hyperekplexia: overexcitable and underdiagnosed.

Thomas RH.

Dev Med Child Neurol. 2015 Apr;57(4):313. doi: 10.1111/dmcn.12638. Epub 2014 Nov 19. No abstract available.

47.

Novel auto-antibody syndromes.

Thomas RH, Robertson NP.

J Neurol. 2014 Oct;261(10):2043-5. doi: 10.1007/s00415-014-7497-2. No abstract available.

PMID:
25223959
48.

Epilepsy prevalence and socioeconomic deprivation in England.

Steer S, Pickrell WO, Kerr MP, Thomas RH.

Epilepsia. 2014 Oct;55(10):1634-41. doi: 10.1111/epi.12763. Epub 2014 Sep 2.

49.

Rasmussen's aneurysm.

Nzekwu E, Hnatiuk BD, Thomas RH.

Br J Hosp Med (Lond). 2014 Jul;75(7):410-1. doi: 10.12968/hmed.2014.75.7.410. No abstract available.

PMID:
25040524
50.

Harmonizing influenza primary-care surveillance in the United Kingdom: piloting two methods to assess the timing and intensity of the seasonal epidemic across several general practice-based surveillance schemes.

Green HK, Charlett A, Moran-Gilad J, Fleming D, Durnall H, Thomas DR, Cottrell S, Smyth B, Kearns C, Reynolds AJ, Smith GE, Elliot AJ, Ellis J, Zambon M, Watson JM, McMenamin J, Pebody RG.

Epidemiol Infect. 2015 Jan;143(1):1-12. doi: 10.1017/S0950268814001757. Epub 2014 Jul 15. Review.

PMID:
25023603

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