Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

389 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diagnostic implications of genetic copy number variation in epilepsy plus.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Coppola A, et al. Among authors: de jonghe p. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866059 Free PMC article.
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P. Deprez L, et al. Among authors: de jonghe p. Epilepsia. 2008 Mar;49(3):500-8. doi: 10.1111/j.1528-1167.2007.01415.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028407 Free article.
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R. Marini C, et al. Among authors: de jonghe p. Epilepsia. 2011 Apr;52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Epilepsia. 2011. PMID: 21463275 Free article. Review.
SCN1A testing for epilepsy: application in clinical practice.
Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF; Genetics Commission of the International League Against Epilepsy. Hirose S, et al. Among authors: de jonghe p. Epilepsia. 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15. Epilepsia. 2013. PMID: 23586701 Free article.
Duplications of 17q12 can cause familial fever-related epilepsy syndromes.
Hardies K, Weckhuysen S, Peeters E, Holmgren P, Van Esch H, De Jonghe P, Van Paesschen W, Suls A. Hardies K, et al. Among authors: de jonghe p. Neurology. 2013 Oct 15;81(16):1434-40. doi: 10.1212/WNL.0b013e3182a84163. Epub 2013 Sep 18. Neurology. 2013. PMID: 24049133
STXBP1 as a therapeutic target for epileptic encephalopathy.
Stamberger H, Weckhuysen S, De Jonghe P. Stamberger H, et al. Among authors: de jonghe p. Expert Opin Ther Targets. 2017 Nov;21(11):1027-1036. doi: 10.1080/14728222.2017.1386175. Epub 2017 Oct 5. Expert Opin Ther Targets. 2017. PMID: 28971703 Review.
389 results