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Page 1
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
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. Datta AN, et al. Among authors: pressler rm. Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410528 Free PMC article.
Myoclonic epilepsy in a child with 17q22-q23.1 deletion.
Coppola A, Tostevin A, McTague A, Pressler RM, Cross JH, Sisodiya SM. Coppola A, et al. Among authors: pressler rm. Am J Med Genet A. 2013 Aug;161A(8):2036-9. doi: 10.1002/ajmg.a.36010. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794376
Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children.
Centeno M, Tierney TM, Perani S, Shamshiri EA, StPier K, Wilkinson C, Konn D, Banks T, Vulliemoz S, Lemieux L, Pressler RM, Clark CA, Cross JH, Carmichael DW. Centeno M, et al. Among authors: pressler rm. PLoS One. 2016 Feb 12;11(2):e0149048. doi: 10.1371/journal.pone.0149048. eCollection 2016. PLoS One. 2016. PMID: 26872220 Free PMC article.
Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy.
Centeno M, Tierney TM, Perani S, Shamshiri EA, St Pier K, Wilkinson C, Konn D, Vulliemoz S, Grouiller F, Lemieux L, Pressler RM, Clark CA, Cross JH, Carmichael DW. Centeno M, et al. Among authors: pressler rm. Ann Neurol. 2017 Aug;82(2):278-287. doi: 10.1002/ana.25003. Epub 2017 Aug 9. Ann Neurol. 2017. PMID: 28749544
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: pressler rm. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS).
Osborne JP, Edwards SW, Dietrich Alber F, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick A, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, O'Callaghan FJK; participating investigators. Osborne JP, et al. Epilepsia. 2019 Sep;60(9):1861-1869. doi: 10.1111/epi.16305. Epub 2019 Aug 16. Epilepsia. 2019. PMID: 31418851
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM. Pressler RM, et al. Epilepsia. 2021 Mar;62(3):615-628. doi: 10.1111/epi.16815. Epub 2021 Feb 1. Epilepsia. 2021. PMID: 33522601
101 results