Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 26

1.

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH.

Pediatr Neurol. 2018 Oct;87:48-56. doi: 10.1016/j.pediatrneurol.2018.04.012. Epub 2018 May 7.

PMID:
30174244
2.

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS.

Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31.

PMID:
30171078
3.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.

Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. doi: 10.1073/pnas.1800077115. Epub 2018 May 29.

4.

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.

Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS.

Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11.

5.

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

Manikkam SA, Chetcuti K, Howell KB, Savarirayan R, Fink AM, Mandelstam SA.

AJNR Am J Neuroradiol. 2018 Feb;39(2):380-384. doi: 10.3174/ajnr.A5468. Epub 2017 Nov 23.

6.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J.

Neurology. 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12.

7.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.

8.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

9.

Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.

Leong O, Andersen E, Yiu EM, Green D, Mackay MT, Elder JE, Howell KB.

J Paediatr Child Health. 2016 Aug;52(8):842-6. doi: 10.1111/jpc.13251. Epub 2016 May 31. No abstract available.

PMID:
27244053
10.

A single point in protein trafficking by Plasmodium falciparum determines the expression of major antigens on the surface of infected erythrocytes targeted by human antibodies.

Chan JA, Howell KB, Langer C, Maier AG, Hasang W, Rogerson SJ, Petter M, Chesson J, Stanisic DI, Duffy MF, Cooke BM, Siba PM, Mueller I, Bull PC, Marsh K, Fowkes FJ, Beeson JG.

Cell Mol Life Sci. 2016 Nov;73(21):4141-58. doi: 10.1007/s00018-016-2267-1. Epub 2016 May 19.

11.

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC.

Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug.

12.

Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.

Howell KB, Harvey AS, Archer JS.

Epilepsia. 2016 Mar;57(3):343-7. doi: 10.1111/epi.13306. Epub 2016 Jan 18. Review.

13.

Predictors and Social Consequences of Online Interactive Self-Disclosure: A Literature Review from 2002 to 2014.

Desjarlais M, Gilmour J, Sinclair J, Howell KB, West A.

Cyberpsychol Behav Soc Netw. 2015 Dec;18(12):718-25. doi: 10.1089/cyber.2015.0109. Review.

PMID:
26652672
14.

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE.

Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. Epub 2015 Nov 17. Review.

PMID:
26597089
15.

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE.

Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19.

16.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P.

Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25.

17.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM.

Am J Med Genet A. 2014 Jan;164A(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21.

PMID:
24352913
18.

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL.

Dev Med Child Neurol. 2014 May;56(5):498-502. doi: 10.1111/dmcn.12346. Epub 2013 Nov 23.

19.

De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

20.

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Riess S, Reddihough DS, Howell KB, Dagia C, Jaeken J, Matthijs G, Yaplito-Lee J.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):170-5. doi: 10.1016/j.ymgme.2013.05.020. Epub 2013 Jun 7.

PMID:
23791010
21.

High resolution chromosomal microarray in undiagnosed neurological disorders.

Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ.

J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3.

PMID:
23731025
22.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

23.

Targets of antibodies against Plasmodium falciparum-infected erythrocytes in malaria immunity.

Chan JA, Howell KB, Reiling L, Ataide R, Mackintosh CL, Fowkes FJ, Petter M, Chesson JM, Langer C, Warimwe GM, Duffy MF, Rogerson SJ, Bull PC, Cowman AF, Marsh K, Beeson JG.

J Clin Invest. 2012 Sep;122(9):3227-38. doi: 10.1172/JCI62182. Epub 2012 Aug 1.

24.

Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children.

Howell KB, Tiedemann K, Haeusler G, Mackay MT, Kornberg AJ, Freeman JL, Harvey AS.

Epilepsia. 2012 Jul;53(7):e122-6. doi: 10.1111/j.1528-1167.2012.03494.x. Epub 2012 May 3.

25.

Long-term follow-up of febrile infection-related epilepsy syndrome.

Howell KB, Katanyuwong K, Mackay MT, Bailey CA, Scheffer IE, Freeman JL, Berkovic SF, Harvey AS.

Epilepsia. 2012 Jan;53(1):101-10. doi: 10.1111/j.1528-1167.2011.03350.x. Epub 2011 Dec 22.

26.

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent.

Howell KB, Wanigasinghe J, Leventer RJ, Ryan MM.

Pediatr Neurol. 2007 Nov;37(5):378-81.

PMID:
17950429

Supplemental Content

Loading ...
Support Center