Dr. med. Sarah Elisabeth Bürki

• FMH: Verbindung der Schweizer Ärztinnen und Ärzte
• SGP: Schweizerische Gesellschaft für Pädiatrie
• SGNP: Schweizerische Gesellschaft für Neuropädiatrie
• SGKN: Schweizerische Gesellschaft für klinische Neurophysiologie
• SGSSC: Schweizerischen Gesellschaft für Schlafforschung, Schlafmedizin und Chronobiologie
• Schweizerische Epilepsie‑Liga
• GNP: Gesellschaft für Neuropädiatrie
• EPNS: European Paediatric Neurology Society
• AES: American Epilepsy Society
• EAN: European Academy of Neurology
• AAN: American Academy of Neurology

Buerki S.E., Haas C, Neubauer J. Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death. Seizure - European Journal of Epilepsy, 2023

Bürki S.E., Bicciato G, Moser K., Ramantani G., Rüegger A. Epilepsien im Kindes- und Jugendalter. Psychiatrie + Neurologie. 3/2023

Bättig L, Rosch RE, Steindl K, Bürki SE, Ramantani G. Sotos syndrome and the added value of genetic workup in epilepsy surgery. Epilepsia Open 2021

Bättig L, Rosch R, Steindl K, Bürki SE, Ramantani G. Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epileptic Disord. 2021

Bürki SE. Rasmussen-Epilepsie – Erstmanifestation mit fokaler Epilepsie mit posteriorem Schwerpunkt. Z. Epileptol. 2021

Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 2021

Lidzba K, Bürki SE, Staudt M. Predicting Language Outcome After Left Hemispherotomy: A Systematic Literature Review. Neurol Clin Pract. 2021

Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 2019

Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Front Neurol. 2019

Buerki SE, Genetics in Epilepsy “plus”: Focus on the Role of CGH Array, Epileptologie 2018

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.

Collaborators (26): Adam S, du Souich C, Elliott AM, Lehman A, Mwenifumbo J, Nelson TN, van Karnebeek C, Friedman JM, Adam S, Boelman C, Bolbocean C, Buerki SE, Candido T, Eydoux P, Evans DM, Gibson W, Horvath G, Huh L, Nelson TN, Sinclair G, Tarling T, Toyota EB, Townsend KN, Van Allen MI, van Karnebeek C, Vercauteren S. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. Am J Hum Genet. 2017

Demos M, Guella I, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova RR, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. PhD2. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy. bioRxiv preprint first posted online May. 17, 2017

Wilbur C, Buerki SE, Guella I, Toyota E, Evans DM, Mckenzie MB, Datta A, Michoulas A, Adam S, Van Allen M, Nelson TN, Farrer MJ, Connolly MB, Demos M. An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. Pediatr Neurol 2017

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI, Suri M, Elmslie F, Simon ME, van Gassen KL, Héron D, Keren B, Nava C, Connolly MB, Demos M and Farrer MJ. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American journal of human genetics 2017

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 and Demos M. De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. Neurology Genetics 2016

Buerki SE, Grandgirard D, Datta AN, Hackenberg A, Martin F, Schmitt-Mechelke T, Leib SL, Steinlin M, on behalf of the Swiss Neuropediatric Stroke Registry Study Group. Inflammatory markers in pediatric stroke: An attempt to better understanding the Pathophysiology. Eur J Paediatr Neurol 2016

Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S, Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels C, Fogarasi A, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, Philippi H, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G. Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. Eur J Paediatr Neurol 2015

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. Incidence and outcomes of symptomatic neonatal arterial ischemic stroke. Pediatrics 2015

Buerki SE, Connolly MB. The importance of cerebral magnetic resonance imaging in evaluation of neonatal seizures. Dev Med Child Neurol 2015

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. Focal hemodynamic patterns of status epilepticus detected by susceptibility weighted imaging (SWI). Eur Radiol 2014

Bosemani T, Boltshauser E, Staudt M, Flores-Sarnat, Bürki S, Pieper T, Sarnat HB, Wei XC,

Hartman AL, Huisman TAGM, Poretti A. Hemimegalencephaly: involvement of cranial nerves and intracranial vessels. Neuropediatrics 2013

Serra AL, Bonny O, Bürki S, Dorn T, Fuster D, Guzman R, Hofbauer G, Jenny B, Kätterer Ch, Plecko-Startinig B, Weibel L, Roth P, Steinlin M, Wohlrab G, Dill PE. Tuberous Sclerosis Complex, Review, mTOR pathway. Swiss Medical Weekly 2013

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R , Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer Ch, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR,

Thiele H, Nürnberg P, Wilhelm Ch, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics 2013

J Hansen, J Mohr, S Buerki, J Lemke. A girl with cohesinopathy due to a novel de novo SMC1A splice site mutation. Clinical Dysmorphology 2013

Lemke J, Buerki SE. Genetik der infantilen epileptischen Enzephalopathien. Epileptologie 2013

Buerki S., Steinlin M. Coexistent childhood renovascular and cerebrovascular disease. Commentary on the original article by Willsher et al. Dev Med Child Neurol 2013

Verschuuren S, Poretti A, Buerki S, Lequin MH, Huismann TA. Susceptibility-Weighted Imaging of the Pediatric Brain. Am Journal Radiology 2012

Buerki S, Steinlin M. Schlaganfall – auch im Kindesalter ein Thema. Up-Date Neuropädiatrie in NeuroLogisch (Offizielles Organ der Österreichischen Gesellschaft für Neurologie) 2012

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012

Bigi S, Fischer U, Wehrli E, Mattle HP, Boltshauser E, Bürki S, Jeannet PY, Fluss J, Weber P,

Nedeltchev K, El-Koussy M, Steinlin M, Arnold M. Acute ischaemic stroke in children and young adults: Differences in clinical presentation, aetiology and outcome. Annals of Neurology 2011

Chaudri A, Bürki S, Donati F, Humpert S, Strozzi S, Weisstanner C, Villiger R. Plötzliche

Gehverweigerung im Kleinkindesalter – eine diagnostische Herausforderung. Swiss Medical Weekly 2011

Buerki S, Roellin K, Remonda L, Mercati DG, Jeannet PY, Keller E, Luetschg J, Menache C, Ramelli GP, Schmitt-Mechelke T, Weissert M, Boltshauser E, Steinlin M. Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies. Dev Med Child Neurol 2010

Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol 2009

Buerki S, Adler RH. Negative affect states and cardiovascular disorders: a review and proposal of a unifying biopsychosocial concept. Gen Hosp Psychiatry 2005

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