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Items: 43

1.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

2.

Store depletion-induced h-channel plasticity rescues a channelopathy linked to Alzheimer's disease.

Musial TF, Molina-Campos E, Bean LA, Ybarra N, Borenstein R, Russo ML, Buss EW, Justus D, Neuman KM, Ayala GD, Mullen SA, Voskobiynyk Y, Tulisiak CT, Fels JA, Corbett NJ, Carballo G, Kennedy CD, Popovic J, Ramos-Franco J, Fill M, Pergande MR, Borgia JA, Corbett GT, Pahan K, Han Y, Chetkovich DM, Vassar RJ, Byrne RW, Matthew Oh M, Stoub TR, Remy S, Disterhoft JF, Nicholson DA.

Neurobiol Learn Mem. 2018 Oct;154:141-157. doi: 10.1016/j.nlm.2018.06.004. Epub 2018 Jun 12.

PMID:
29906573
3.

The association of panic and hyperventilation with psychogenic non-epileptic seizures: A systematic review and meta-analysis.

Indranada AM, Mullen SA, Duncan R, Berlowitz DJ, Kanaan RAA.

Seizure. 2018 Jul;59:108-115. doi: 10.1016/j.seizure.2018.05.007. Epub 2018 May 19. Review.

PMID:
29787922
4.

Genetic generalized epilepsies.

Mullen SA, Berkovic SF; ILAE Genetics Commission.

Epilepsia. 2018 Jun;59(6):1148-1153. doi: 10.1111/epi.14042. Epub 2018 May 9.

PMID:
29741207
5.

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.

Mullen SA, Carney PW, Roten A, Ching M, Lightfoot PA, Churilov L, Nair U, Li M, Berkovic SF, Petrou S, Scheffer IE.

Neurology. 2018 Jan 2;90(1):e67-e72. doi: 10.1212/WNL.0000000000004769. Epub 2017 Dec 1.

PMID:
29196578
6.

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS.

Epilepsy Res. 2017 Jul;133:54-57. doi: 10.1016/j.eplepsyres.2017.04.007. Epub 2017 Apr 10.

PMID:
28419980
7.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.

PMID:
27810516
8.

Synaptic Zn2+ and febrile seizure susceptibility.

Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S.

Br J Pharmacol. 2017 Jan;174(2):119-125. doi: 10.1111/bph.13658. Epub 2016 Nov 28. Review.

9.

Evaluation of non-coding variation in GLUT1 deficiency.

Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS; Clinical Group.

Dev Med Child Neurol. 2016 Dec;58(12):1295-1302. doi: 10.1111/dmcn.13163. Epub 2016 Jun 6.

10.

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.

11.

A targeted resequencing gene panel for focal epilepsy.

Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC.

Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30.

12.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.

Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA.

Sci Rep. 2015 Dec 9;5:17816. doi: 10.1038/srep17816.

13.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Damiano JA, Mullen SA, Hildebrand MS, Bellows ST, Lawrence KM, Arsov T, Dibbens L, Major H, Dahl HH, Mefford HC, Darbro BW, Scheffer IE, Berkovic SF.

Epilepsy Res. 2015 Nov;117:70-3. doi: 10.1016/j.eplepsyres.2015.09.007. Epub 2015 Sep 9.

PMID:
26421493
14.

CHD2 variants are a risk factor for photosensitivity in epilepsy.

Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM.

Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17.

15.

Lamotrigine can be beneficial in patients with Dravet syndrome.

Dalic L, Mullen SA, Roulet Perez E, Scheffer I.

Dev Med Child Neurol. 2015 Feb;57(2):200-2. doi: 10.1111/dmcn.12593. Epub 2014 Sep 22.

16.

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HH, Scheffer IE, Berkovic SF.

Epilepsia. 2014 Feb;55(2):e18-21. doi: 10.1111/epi.12519. Epub 2014 Jan 31.

17.

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF.

Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. No abstract available.

PMID:
24408008
18.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

19.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

20.

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC.

Am J Med Genet A. 2013 Jul;161A(7):1722-5. doi: 10.1002/ajmg.a.35946. Epub 2013 May 17.

21.

Epilepsy in 2012: Advances in epilepsy shed light on key questions.

Scheffer IE, Mullen SA.

Nat Rev Neurol. 2013 Feb;9(2):66-8. doi: 10.1038/nrneurol.2012.272. Epub 2013 Jan 8. Review.

PMID:
23296338
22.

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE.

Ann Neurol. 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702.

PMID:
23280796
23.

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE.

Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25.

24.

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov T, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Scheffer IE, Guerrini R.

Arch Neurol. 2011 Sep;68(9):1152-5. doi: 10.1001/archneurol.2011.102. Epub 2011 May 9.

PMID:
21555602
25.

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE.

Neurology. 2010 Aug 3;75(5):432-40. doi: 10.1212/WNL.0b013e3181eb58b4. Epub 2010 Jun 23.

PMID:
20574033
26.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE.

Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724.

PMID:
19798636
27.

A neurologist's guide to genome-wide association studies.

Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF.

Neurology. 2009 Feb 10;72(6):558-65. doi: 10.1212/01.wnl.0000341942.29513.bd. Review.

PMID:
19204266
28.

Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.

Mullen SA, Scheffer IE.

Arch Neurol. 2009 Jan;66(1):21-6. doi: 10.1001/archneurol.2008.559. Review.

PMID:
19139296
29.

Epileptiform EEG abnormalities in children with language regression.

Scheffer IE, Parry-Fielder B, Mullen SA, Saunders K.

Neurology. 2006 Oct 24;67(8):1527; author reply 1527. No abstract available.

PMID:
17060605
30.

Gender differences in cues that affect condom use among adolescents in Lomé, Togo.

Speizer IS, Mullen SA, Vignikin EK, Kouwonou K.

Afr J Reprod Health. 2002 Dec;6(3):70-81.

PMID:
12685411
31.

Frank C.Coleman, M.D. Man of many talents.

Mullen SA.

J Fla Med Assoc. 1988 Jul;75(7):415-6. No abstract available.

PMID:
3049919
32.

The Florida Medical Association and health care financing.

Mullen SA.

J Fla Med Assoc. 1982 Mar;69(3):163-4. No abstract available.

PMID:
7077272
33.

The FMA Retired Lives Reserve: an innovative plan to insure your future.

Mullen SA.

J Fla Med Assoc. 1981 Dec;68(12):989-90. No abstract available.

PMID:
7328401
34.

President's page: Florida doctors and the American Medical Association.

Mullen SA.

J Fla Med Assoc. 1981 Nov;68(11):867-9. No abstract available.

PMID:
7334322
35.

Community service by physicians.

Mullen SA.

J Fla Med Assoc. 1981 Jun;68(6):413. No abstract available.

PMID:
7241080
36.

The Comprehensive Blood Bank Survey of the College of American Pathologists--1978.

Walker RH, Mullen SA, Myhre BA, Polesky HF, van der Hoeven LH, van Schoonhoven PV.

Am J Clin Pathol. 1980 Oct;74(4 Suppl):560-4.

PMID:
7435448
37.

Autologous blood transfusions.

Mullen SA.

J Fla Med Assoc. 1979 Jan;66(1):31-4. No abstract available.

PMID:
762517
38.

In memoriam. Lucien Y. Dyrenforth, Sr., M.D. 1895-1970.

Mullen SA.

Am J Clin Pathol. 1970 Nov;54(5):777-8. No abstract available.

PMID:
4920038
39.

Liability for transfusion hepatitis.

Mullen SA.

JAMA. 1970 Jul 20;213(3):467. No abstract available.

PMID:
5468025
40.

Physician of the day and the capitol dispensary.

Mullen SA.

J Fla Med Assoc. 1970 Jan;57(1):60-1. No abstract available.

PMID:
5410121
41.

Uniform Anatomical Gift Act.

Mullen SA.

J Fla Med Assoc. 1969 Dec;56(12):927. No abstract available.

PMID:
5359638
42.

IN MEMORIAM RALPH MOSTELLER, M.D. 1888-1961.

MULLEN SA.

Am J Clin Pathol. 1963 Aug;40:201. No abstract available.

PMID:
14060025
43.

Intraepithelial cancer in pregnancy; a case report.

MULLEN SA, FORAKER AG.

Obstet Gynecol. 1954 Mar;3(3):274-82. No abstract available.

PMID:
13133254

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