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Items: 1 to 50 of 79

1.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM.

J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1. [Epub ahead of print]

PMID:
30033481
2.

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

Qiao Y, Bagheri H, Tang F, Badduke C, Martell S, Lewis SME, Robinson W, Connolly MB, Arbour L, Rajcan-Separovic E.

Eur J Med Genet. 2019 Feb;62(2):103-108. doi: 10.1016/j.ejmg.2018.06.010. Epub 2018 Jun 13.

PMID:
29908350
3.

Humanized mouse model of Rasmussen's encephalitis supports the immune-mediated hypothesis.

Kebir H, Carmant L, Fontaine F, Béland K, Bosoi CM, Sanon NT, Alvarez JI, Desgent S, Pittet CL, Hébert D, Langlois MJ, Rébillard RM, Nguyen DK, Cieuta-Walti C, Holmes GL, Goodkin HP, Mytinger JR, Connolly MB, Prat A, Haddad E.

J Clin Invest. 2018 May 1;128(5):2000-2009. doi: 10.1172/JCI97098. Epub 2018 Apr 9.

4.

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre.

van Karnebeek CDM, Dunbar M, Egri C, Sayson B, Milea J, Stockler-Ipsiroglu S, Huh L, Connolly MB, Horvath GA.

Can J Neurol Sci. 2018 Mar;45(2):206-213. doi: 10.1017/cjn.2017.271.

PMID:
29506600
5.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.

J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.

PMID:
29246092
6.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.

PMID:
28811059
7.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

8.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

9.

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center.

Datta AN, Xu Q, Sachedina S, Boelman C, Huh L, Connolly MB.

J Child Neurol. 2017 Aug;32(9):834-839. doi: 10.1177/0883073817709195. Epub 2017 May 16.

PMID:
28511603
10.

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM.

Epilepsia. 2017 Apr;58(4):512-521. doi: 10.1111/epi.13709. Epub 2017 Mar 8.

11.

Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic.

Wilbur C, Sanguansermsri C, Chable H, Anghelina M, Peinhof S, Anderson K, Steinbok P, Singhal A, Datta A, Connolly MB.

Can J Neurol Sci. 2017 Jan;44(1):35-43. doi: 10.1017/cjn.2016.311.

PMID:
28004629
12.

Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.

Knerlich-Lukoschus F, Connolly MB, Hendson G, Steinbok P, Dunham C.

J Neurosurg Pediatr. 2017 Feb;19(2):182-195. doi: 10.3171/2016.8.PEDS1686. Epub 2016 Nov 25.

PMID:
27885945
13.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

14.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

15.

Dravet Syndrome: Diagnosis and Long-Term Course.

Connolly MB.

Can J Neurol Sci. 2016 Jun;43 Suppl 3:S3-8. doi: 10.1017/cjn.2016.243. Review.

PMID:
27264139
16.

Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study.

Fallah A, Rodgers SD, Weil AG, Vadera S, Mansouri A, Connolly MB, Major P, Ma T, Devinsky O, Weiner HL, Gonzalez-Martinez JA, Bingaman WE, Najm I, Gupta A, Ragheb J, Bhatia S, Steinbok P, Witiw CD, Widjaja E, Snead OC, Rutka JT.

Neurosurgery. 2015 Oct;77(4):517-24; discussion 524. doi: 10.1227/NEU.0000000000000875.

PMID:
26120800
17.

Recovery From Central Nervous System Acute Demyelination in Children.

O'Mahony J, Marrie RA, Laporte A, Yeh EA, Bar-Or A, Phan C, Buckley D, Callen D, Connolly MB, Pohl D, Dilenge ME, Bernard G, Lortie A, Lowry N, MacDonald EA, Meek D, Sébire G, Venkateswaran S, Wood E, Yager J, Banwell B.

Pediatrics. 2015 Jul;136(1):e115-23. doi: 10.1542/peds.2015-0028. Epub 2015 Jun 1.

18.

The "vagal ansa": a source of complication in vagus nerve stimulation.

Gopalakrishnan CV, Kestle JR, Connolly MB.

J Neurosurg Pediatr. 2015 May;15(5):535-8. doi: 10.3171/2014.10.PEDS14259. Epub 2015 Feb 20.

PMID:
25700120
19.

The importance of cerebral magnetic resonance imaging in evaluation of neonatal seizures.

Buerki SE, Connolly MB.

Dev Med Child Neurol. 2015 Mar;57(3):210-1. doi: 10.1111/dmcn.12640. Epub 2014 Nov 19. No abstract available.

20.

Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.

Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC; CPNDS clinical recommendation group.

Epilepsia. 2014 Apr;55(4):496-506. doi: 10.1111/epi.12564. Epub 2014 Mar 5. Review.

21.

MRI findings in infants with infantile spasms after neonatal hypoxic-ischemic encephalopathy.

Gano D, Sargent MA, Miller SP, Connolly MB, Wong P, Glass HC, Poskitt KJ, Chau V.

Pediatr Neurol. 2013 Dec;49(6):401-5. doi: 10.1016/j.pediatrneurol.2013.08.007. Epub 2013 Oct 2.

22.

Hippocampal malrotation and temporal lobe epilepsy: what is the relationship?

Connolly MB.

Can J Neurol Sci. 2013 Sep;40(5):626-7. No abstract available.

PMID:
23968933
23.

A case report of obsessive-compulsive disorder following acute disseminated encephalomyelitis.

Muir KE, McKenney KS, Connolly MB, Stewart SE.

Pediatrics. 2013 Sep;132(3):e771-4. doi: 10.1542/peds.2012-2876. Epub 2013 Aug 5.

PMID:
23918895
24.

Status epilepticus amauroticus and posterior reversible encephalopathy syndrome in children.

Muro VL, Yip S, Huh L, Connolly MB.

J Clin Neurophysiol. 2013 Aug;30(4):344-7. doi: 10.1097/WNP.0b013e31829de004.

PMID:
23912571
25.

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB.

Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23.

PMID:
22529283
26.

Systematic review and case series of neuropsychological functioning after epilepsy surgery in children with dysembryoplastic neuroepithelial tumors (DNET).

Fay-McClymont TB, Hrabok M, Sherman EM, Hader WJ, Connolly MB, Akdag S, Mohamed IS, Wiebe S.

Epilepsy Behav. 2012 Apr;23(4):481-6. doi: 10.1016/j.yebeh.2011.12.011. Epub 2012 Mar 2. Review.

PMID:
22386912
27.

Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study.

Banwell B, Bar-Or A, Arnold DL, Sadovnick D, Narayanan S, McGowan M, O'Mahony J, Magalhaes S, Hanwell H, Vieth R, Tellier R, Vincent T, Disanto G, Ebers G, Wambera K, Connolly MB, Yager J, Mah JK, Booth F, Sebire G, Callen D, Meaney B, Dilenge ME, Lortie A, Pohl D, Doja A, Venketaswaran S, Levin S, Macdonald EA, Meek D, Wood E, Lowry N, Buckley D, Yim C, Awuku M, Cooper P, Grand'maison F, Baird JB, Bhan V, Marrie RA.

Lancet Neurol. 2011 May;10(5):436-45. doi: 10.1016/S1474-4422(11)70045-X. Epub 2011 Mar 31.

PMID:
21459044
28.

Cerebrovasculopathy in NF1 associated with ocular and scalp defects.

Smith M, Heran MK, Connolly MB, Heran HK, Friedman JM, Jett K, Lyons CJ, Steinbok P, Armstrong L.

Am J Med Genet A. 2011 Feb;155A(2):380-5. doi: 10.1002/ajmg.a.33788. Epub 2010 Dec 22.

PMID:
21271658
29.

Electroclinical features of absence seizures in sleep.

Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE.

Epilepsy Res. 2011 Feb;93(2-3):216-20. doi: 10.1016/j.eplepsyres.2010.12.009. Epub 2011 Jan 20.

PMID:
21255980
30.

Parents report more ADHD symptoms than do teachers in children with epilepsy.

Sherman EM, Brooks BL, Akdag S, Connolly MB, Wiebe S.

Epilepsy Behav. 2010 Nov;19(3):428-35. doi: 10.1016/j.yebeh.2010.08.015.

PMID:
20926354
31.

Electrocorticography and seizure outcomes in children with lesional epilepsy.

Gelinas JN, Battison AW, Smith S, Connolly MB, Steinbok P.

Childs Nerv Syst. 2011 Mar;27(3):381-90. doi: 10.1007/s00381-010-1279-7. Epub 2010 Sep 21.

PMID:
20857122
32.

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, Horvath GA, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S.

Mol Genet Metab. 2010 Dec;101(4):409-12. doi: 10.1016/j.ymgme.2010.08.016. Epub 2010 Aug 26.

PMID:
20846889
33.

Epilepsy and memory dysfunction.

Connolly MB.

Can J Neurol Sci. 2009 Aug;36 Suppl 2:S41. No abstract available.

PMID:
19760900
34.

Cingulate lesions presenting with epileptic spasms.

Schrader D, Langill L, Singhal A, Steinbok P, Connolly MB.

J Clin Neurophysiol. 2009 Oct;26(5):342-7. doi: 10.1097/WNP.0b013e3181baaacf.

PMID:
19752743
35.

Automatisms in absence seizures in children with idiopathic generalized epilepsy.

Sadleir LG, Scheffer IE, Smith S, Connolly MB, Farrell K.

Arch Neurol. 2009 Jun;66(6):729-34. doi: 10.1001/archneurol.2009.108.

PMID:
19506132
36.

Red reflex mimicking lens subluxation in a child undergoing orthokeratology.

Wiwatwongwana A, Connolly MB, Lyons CJ.

Eye (Lond). 2010 Jan;24(1):182. doi: 10.1038/eye.2009.46. Epub 2009 Mar 20. No abstract available.

PMID:
19300465
37.

EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state.

Sadleir LG, Scheffer IE, Smith S, Carstensen B, Farrell K, Connolly MB.

Epilepsia. 2009 Jun;50(6):1572-8. doi: 10.1111/j.1528-1167.2008.02001.x. Epub 2009 Feb 23.

38.

Epilepsy surgery in the first 3 years of life: a Canadian survey.

Steinbok P, Gan PY, Connolly MB, Carmant L, Barry Sinclair D, Rutka J, Griebel R, Aronyk K, Hader W, Ventureyra E, Atkinson J.

Epilepsia. 2009 Jun;50(6):1442-9. doi: 10.1111/j.1528-1167.2008.01992.x. Epub 2009 Jan 21.

39.

Incidence of acquired demyelination of the CNS in Canadian children.

Banwell B, Kennedy J, Sadovnick D, Arnold DL, Magalhaes S, Wambera K, Connolly MB, Yager J, Mah JK, Shah N, Sebire G, Meaney B, Dilenge ME, Lortie A, Whiting S, Doja A, Levin S, MacDonald EA, Meek D, Wood E, Lowry N, Buckley D, Yim C, Awuku M, Guimond C, Cooper P, Grand'Maison F, Baird JB, Bhan V, Bar-Or A.

Neurology. 2009 Jan 20;72(3):232-9. doi: 10.1212/01.wnl.0000339482.84392.bd.

PMID:
19153370
40.

Factors influencing clinical features of absence seizures.

Sadleir LG, Scheffer IE, Smith S, Carstensen B, Carlin J, Connolly MB, Farrell K.

Epilepsia. 2008 Dec;49(12):2100-7. doi: 10.1111/j.1528-1167.2008.01708.x. Epub 2008 Jun 26.

41.

Quality of life and seizure outcome after vagus nerve stimulation in children with intractable epilepsy.

Sherman EM, Connolly MB, Slick DJ, Eyrl KL, Steinbok P, Farrell K.

J Child Neurol. 2008 Sep;23(9):991-8. doi: 10.1177/0883073808315417. Epub 2008 May 12.

PMID:
18474931
42.

Sociodemographic correlates of health-related quality of life in pediatric epilepsy.

Sherman EM, Griffiths SY, Akdag S, Connolly MB, Slick DJ, Wiebe S.

Epilepsy Behav. 2008 Jan;12(1):96-101. Epub 2007 Oct 31.

PMID:
17974486
43.

Epilepsy associated with a cerebellar arachnoid cyst: seizure control following fenestration of the cyst.

Gan YC, Connolly MB, Steinbok P.

Childs Nerv Syst. 2008 Jan;24(1):125-34. Epub 2007 Aug 7.

PMID:
17680249
44.

ADHD, neurological correlates and health-related quality of life in severe pediatric epilepsy.

Sherman EM, Slick DJ, Connolly MB, Eyrl KL.

Epilepsia. 2007 Jun;48(6):1083-91. Epub 2007 Mar 22.

45.

Postsurgical health-related quality of life (HRQOL) in children following hemispherectomy for intractable epilepsy.

Griffiths SY, Sherman EM, Slick DJ, Eyrl K, Connolly MB, Steinbok P.

Epilepsia. 2007 Mar;48(3):564-70. Epub 2007 Feb 22.

46.

Hemispheric surgery in children with refractory epilepsy: seizure outcome, complications, and adaptive function.

Basheer SN, Connolly MB, Lautzenhiser A, Sherman EM, Hendson G, Steinbok P.

Epilepsia. 2007 Jan;48(1):133-40.

47.

Electroclinical features of absence seizures in childhood absence epilepsy.

Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE.

Neurology. 2006 Aug 8;67(3):413-8.

PMID:
16894100
48.

Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.

Connolly MB, Hendson G, Steinbok P.

Childs Nerv Syst. 2006 Aug;22(8):896-908. Epub 2006 Jun 13. Review.

PMID:
16770618
49.

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.

Ann Neurol. 2005 Jul;58(1):164-7.

PMID:
15984017
50.

Spasms in children with definite and probable mitochondrial disease.

Sadleir LG, Connolly MB, Applegarth D, Hendson G, Clarke L, Rakshi C, Farrell K.

Eur J Neurol. 2004 Feb;11(2):103-10.

PMID:
14748770

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