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

Year Number of Results
1997 1
1998 1
1999 1
2000 1
2001 1
2002 1
2003 2
2004 6
2005 1
2006 7
2007 9
2008 11
2009 13
2010 14
2011 12
2012 29
2013 9
2014 3
2015 6
2016 4
2017 6
2018 7
2019 4
2020 3
2021 4
2022 2
2023 1
2024 0

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136 results

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Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: schelhaas hj. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N. van Hugte EJH, et al. Among authors: schelhaas hj. Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. Brain. 2023. PMID: 37467479 Free PMC article.
[Amyotrophic lateral sclerosis].
Veldink JH, Weikamp J, Schelhaas HJ, van den Berg LH. Veldink JH, et al. Among authors: schelhaas hj. Ned Tijdschr Tandheelkd. 2010 Jul-Aug;117(7-8):380-2. doi: 10.5177/ntvt.2010.08.10122. Ned Tijdschr Tandheelkd. 2010. PMID: 20726497 Review. Dutch.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Wei AD, et al. Among authors: schelhaas hj. J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. J Neurophysiol. 2022. PMID: 35583973 Free PMC article.
Breath analysis in detecting epilepsy.
van Dartel D, Schelhaas HJ, Colon AJ, Kho KH, de Vos CC. van Dartel D, et al. Among authors: schelhaas hj. J Breath Res. 2020 Apr 15;14(3):031001. doi: 10.1088/1752-7163/ab6f14. J Breath Res. 2020. PMID: 31972555
Epilepsy and Sleep in the ATR-X Syndrome.
Mierlo PV, Braakman H, Vandenbussche N, Schelhaas HJ, Pillen S. Mierlo PV, et al. Among authors: schelhaas hj. Neuropediatrics. 2022 Apr;53(2):109-114. doi: 10.1055/s-0041-1740551. Epub 2021 Dec 21. Neuropediatrics. 2022. PMID: 34933379
Vagus Nerve Stimulation in children: A focus on intellectual disability.
Sourbron J, Klinkenberg S, Kessels A, Schelhaas HJ, Lagae L, Majoie M. Sourbron J, et al. Among authors: schelhaas hj. Eur J Paediatr Neurol. 2017 May;21(3):427-440. doi: 10.1016/j.ejpn.2017.01.011. Epub 2017 Jan 30. Eur J Paediatr Neurol. 2017. PMID: 28188025 Review.
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Among authors: schelhaas hj. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: schelhaas hj. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
136 results