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Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M. Absalom NL, et al. Among authors: jansen k. Brain Commun. 2020 Oct 1;2(2):fcaa162. doi: 10.1093/braincomms/fcaa162. eCollection 2020. Brain Commun. 2020. PMID: 33585817 Free PMC article.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: jansen k. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
PPFIA4 mutation: A second hit in POLG related disease?
Sourbron J, Jansen K, Aerts N, Lagae L. Sourbron J, et al. Among authors: jansen k. Epilepsy Behav Rep. 2021 May 7;16:100455. doi: 10.1016/j.ebr.2021.100455. eCollection 2021. Epilepsy Behav Rep. 2021. PMID: 34095804 Free PMC article.
Cardiac changes in epilepsy.
Jansen K, Lagae L. Jansen K, et al. Seizure. 2010 Oct;19(8):455-60. doi: 10.1016/j.seizure.2010.07.008. Epub 2010 Aug 4. Seizure. 2010. PMID: 20688543 Free article. Review.
Bathing epilepsy: a video case of an autonomic seizure.
Jansen K, Vervisch J, Lagae L. Jansen K, et al. Epileptic Disord. 2010 Sep;12(3):236-8. doi: 10.1684/epd.2010.0330. Epub 2010 Aug 24. Epileptic Disord. 2010. PMID: 20736140 Free article.
1,051 results