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Items: 7

1.

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
2.

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.

3.

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.

4.

Inflammatory markers in pediatric stroke: An attempt to better understanding the pathophysiology.

Buerki SE, Grandgirard D, Datta AN, Hackenberg A, Martin F, Schmitt-Mechelke T, Leib SL, Steinlin M; Swiss Neuropediatric Stroke Registry Study Group.

Eur J Paediatr Neurol. 2016 Mar;20(2):252-260. doi: 10.1016/j.ejpn.2015.12.006. Epub 2015 Dec 23.

PMID:
26778232
5.

Incidence and outcomes of symptomatic neonatal arterial ischemic stroke.

Grunt S, Mazenauer L, Buerki SE, Boltshauser E, Mori AC, Datta AN, Fluss J, Mercati D, Keller E, Maier O, Poloni C, Ramelli GP, Schmitt-Mechelke T, Steinlin M.

Pediatrics. 2015 May;135(5):e1220-8. doi: 10.1542/peds.2014-1520. Epub 2015 Apr 20.

6.

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.

7.

Focal hemodynamic patterns of status epilepticus detected by susceptibility weighted imaging (SWI).

Aellen J, Abela E, Buerki SE, Kottke R, Springer E, Schindler K, Weisstanner C, El-Koussy M, Schroth G, Wiest R, Gralla J, Verma RK.

Eur Radiol. 2014 Nov;24(11):2980-8. doi: 10.1007/s00330-014-3284-9. Epub 2014 Aug 6.

PMID:
25097124

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