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

625 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: scheffer ie. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Among authors: scheffer ie. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Genetics of epilepsy: epilepsy research foundation workshop report.
Sisodiya S, Cross JH, Blümcke I, Chadwick D, Craig J, Crino PB, Debenham P, Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R, Hanna M, Harris J, Harrison P, Johnson MR, Kirov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkänen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi S. Sisodiya S, et al. Epileptic Disord. 2007 Jun;9(2):194-236. doi: 10.1684/epd.2007.0107. Epileptic Disord. 2007. PMID: 17525034 Free article.
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: scheffer ie. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: scheffer ie. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
625 results