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

223 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development.
Swaminathan A, Hassan-Abdi R, Renault S, Siekierska A, Riché R, Liao M, de Witte PAM, Yanicostas C, Soussi-Yanicostas N, Drapeau P, Samarut É. Swaminathan A, et al. Among authors: de witte pam. Curr Biol. 2018 Jun 18;28(12):1924-1937.e5. doi: 10.1016/j.cub.2018.04.061. Epub 2018 May 31. Curr Biol. 2018. PMID: 29861134 Free article.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Methylated flavonoids as anti-seizure agents: Naringenin 4',7-dimethyl ether attenuates epileptic seizures in zebrafish and mouse models.
Copmans D, Orellana-Paucar AM, Steurs G, Zhang Y, Ny A, Foubert K, Exarchou V, Siekierska A, Kim Y, De Borggraeve W, Dehaen W, Pieters L, de Witte PAM. Copmans D, et al. Among authors: de borggraeve w, de witte pam. Neurochem Int. 2018 Jan;112:124-133. doi: 10.1016/j.neuint.2017.11.011. Epub 2017 Nov 22. Neurochem Int. 2018. PMID: 29174382
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
223 results