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

657 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Suls A, et al. Among authors: scheffer ie. Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724. Ann Neurol. 2009. PMID: 19798636
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM. Catarino CB, et al. Among authors: scheffer ie. Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29. Brain. 2011. PMID: 21719429 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: scheffer ie. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Poduri A, et al. Among authors: scheffer ie. Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12. Epilepsia. 2012. PMID: 22690784 Free PMC article.
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. Brunklaus A, et al. Among authors: scheffer ie. Dev Med Child Neurol. 2013 Feb;55(2):154-161. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163885 Free article.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R. McTague A, et al. Among authors: scheffer ie. Brain. 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. Brain. 2013. PMID: 23599387 Free PMC article.
657 results