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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1953 1
1957 1
1958 1
1959 2
1960 3
1961 2
1963 1
1965 1
1966 3
1983 1
2011 1
2014 1
2016 2
2017 4
2019 1
2020 1
2021 1
2022 0
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26 results
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Page 1
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
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. Demos M, et al. Among authors: mckenzie mb. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
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. Guella I, et al. Among authors: mckenzie mb. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
Neurobehavioral characterization of adult-onset Alexander disease: A family study.
Lichtenstein ML, Dwosh E, Roy Chowdhury A, Farrer MJ, McKenzie MB, Guella I, Evans DM, Nygaard HB, Shewchuk JR, Hayden S, Barton JJS, Feldman HH. Lichtenstein ML, et al. Among authors: mckenzie mb. Neurol Clin Pract. 2017 Oct;7(5):425-429. doi: 10.1212/CPJ.0000000000000356. Neurol Clin Pract. 2017. PMID: 29620072 Free PMC article. No abstract available.
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. Lehman A, et al. Among authors: mckenzie mb. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC article.
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. Guella I, et al. Among authors: mckenzie mb. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
26 results