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

Year Number of Results
1951 1
1953 1
1957 1
1969 1
1970 1
1974 1
1982 1
1986 1
1993 1
1994 1
1995 2
1996 3
1997 3
1998 1
1999 5
2000 4
2001 5
2002 3
2003 5
2004 3
2005 5
2006 11
2007 5
2008 9
2009 13
2010 11
2011 6
2012 15
2013 22
2014 22
2015 22
2016 15
2017 27
2018 16
2019 30
2020 18
2021 21
2022 21
2023 25
2024 5

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341 results

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Page 1
Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.
Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M. Quinn S, et al. Among authors: lerche h. Biochim Biophys Acta Mol Basis Dis. 2024 Mar 20;1870(5):167127. doi: 10.1016/j.bbadis.2024.167127. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38519006 Free article.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Among authors: lerche h. Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38316952
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: lerche h. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
Voltage-gated calcium channels in genetic epilepsies.
Lauerer RJ, Lerche H. Lauerer RJ, et al. Among authors: lerche h. J Neurochem. 2023 Oct 11. doi: 10.1111/jnc.15983. Online ahead of print. J Neurochem. 2023. PMID: 37822150 Review.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Among authors: lerche h. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
341 results