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Items: 18

1.

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.

Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA.

Epileptic Disord. 2019 Feb 15. doi: 10.1684/epd.2019.1024. [Epub ahead of print]

PMID:
30767897
2.

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

Xu Q, Uliel-Sibony S, Dunham C, Sarnat H, Flores-Sarnat L, Brunga L, Davidson S, Lo W, Shlien A, Connolly M, Boelman C, Datta A.

J Child Neurol. 2019 Mar;34(3):132-138. doi: 10.1177/0883073818813238. Epub 2018 Dec 5.

PMID:
30514132
3.

A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2.

Muir KE, Sargent M, Boelman C.

Pediatr Neurol. 2018 Aug;85:79-81. doi: 10.1016/j.pediatrneurol.2018.05.006. Epub 2018 Jun 4. No abstract available.

PMID:
30122282
4.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.

Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.

PMID:
29852244
5.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P.

PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr.

6.

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW.

G3 (Bethesda). 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080.

7.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C.

Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec.

8.

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.

9.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

10.

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
11.

Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zones.

Sakuma S, Halliday WC, Nomura R, Baba S, Sato Y, Okanari K, Nakajima M, Widjaja E, Boelman C, Ochi A, Snead OC 3rd, Rutka JT, Drake J, Miller S, Otsubo H.

Epilepsia. 2016 Dec;57(12):2031-2038. doi: 10.1111/epi.13590. Epub 2016 Nov 8.

12.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

13.

Spatial relationship between fast and slow components of ictal activities and interictal epileptiform discharges in epileptic spasms.

Akiyama T, Akiyama M, Kobayashi K, Okanishi T, Boelman CG, Nita DA, Ochi A, Go CY, Snead OC 3rd, Rutka JT, Drake JM, Chuang S, Otsubo H.

Clin Neurophysiol. 2015 Sep;126(9):1684-91. doi: 10.1016/j.clinph.2014.12.005. Epub 2014 Dec 15.

PMID:
25557960
14.

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA.

Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

PMID:
25439493
15.

Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex.

Okanishi T, Akiyama T, Tanaka S, Mayo E, Mitsutake A, Boelman C, Go C, Snead OC 3rd, Drake J, Rutka J, Ochi A, Otsubo H.

Epilepsia. 2014 Oct;55(10):1602-10. doi: 10.1111/epi.12761. Epub 2014 Sep 5.

16.

Preictal surrender of post-spike slow waves to spike-related high-frequency oscillations (80-200 Hz) is associated with seizure initiation.

Sato Y, Doesburg SM, Wong SM, Boelman C, Ochi A, Otsubo H.

Epilepsia. 2014 Sep;55(9):1399-405. doi: 10.1111/epi.12728. Epub 2014 Jul 28.

17.

Antithrombotic therapy for secondary stroke prevention in bacterial meningitis in children.

Boelman C, Shroff M, Yau I, Bjornson B, Richrdson S, deVeber G, MacGregor D, Moharir M, Askalan R.

J Pediatr. 2014 Oct;165(4):799-806. doi: 10.1016/j.jpeds.2014.06.013. Epub 2014 Jul 22.

PMID:
25063717
18.

Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets.

Charil A, Zijdenbos AP, Taylor J, Boelman C, Worsley KJ, Evans AC, Dagher A.

Neuroimage. 2003 Jul;19(3):532-44.

PMID:
12880785

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