Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2016 | 1 |
2017 | 1 |
2018 | 2 |
2019 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Clinical spectrum of STX1B-related epileptic disorders.
Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8.
Neurology. 2019.
PMID: 30737342
Free PMC article.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.
Johannesen KM, et al.
Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.
Epilepsia. 2018.
PMID: 29315614
Free PMC article.
Item in Clipboard
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK.
Tang S, et al.
Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29.
Epilepsia. 2020.
PMID: 32469098
Item in Clipboard
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G.
Hofmeister B, et al.
Neuropediatrics. 2021 Apr;52(2):109-122. doi: 10.1055/s-0041-1722878. Epub 2021 Feb 12.
Neuropediatrics. 2021.
PMID: 33578439
Review.
Item in Clipboard
De novo variants in neurodevelopmental disorders with epilepsy.
Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium; Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.
Heyne HO, et al.
Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
Nat Genet. 2018.
PMID: 29942082
Item in Clipboard
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
Tang S, Hughes E, Lascelles K; EuroEPINOMICS RES myoclonic astatic epilepsy working group; Simpson MA, Pal DK.
Tang S, et al.
Am J Med Genet A. 2017 Jan;173(1):195-199. doi: 10.1002/ajmg.a.37935. Epub 2016 Sep 26.
Am J Med Genet A. 2017.
PMID: 27665729
Free PMC article.
Item in Clipboard
Cite
Cite