Thomas Dorn
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Explore the profile of Thomas Dorn including associated specialties, affiliations and a list of published articles.
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Articles
36
Citations
1406
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Recent Articles
1.
Cerulli Irelli E, Fanella M, Chaumette B, Putotto C, Mignot C, Mazzeo A, et al.
Epilepsia
. 2024 Dec;
66(3):859-869.
PMID: 39718534
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.2DS individuals without epilepsy. Methods: This...
2.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, et al.
Epilepsia
. 2019 Mar;
60(4):689-706.
PMID: 30866059
Objective: Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution...
3.
Wolking S, May P, Mei D, Moller R, Balestrini S, Helbig K, et al.
Neurology
. 2019 Feb;
92(11):e1238-e1249.
PMID: 30737342
Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to , encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related...
4.
Baldassari S, Picard F, Verbeek N, van Kempen M, Brilstra E, Lesca G, et al.
Genet Med
. 2018 Sep;
21(8):1896.
PMID: 30262923
The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected...
5.
Baldassari S, Picard F, Verbeek N, van Kempen M, Brilstra E, Lesca G, et al.
Genet Med
. 2018 Aug;
21(7):1671.
PMID: 30158694
The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML,...
6.
Baldassari S, Picard F, Verbeek N, van Kempen M, Brilstra E, Lesca G, et al.
Genet Med
. 2018 Aug;
21(2):398-408.
PMID: 30093711
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We...
7.
Wolff M, Johannesen K, Hedrich U, Masnada S, Rubboli G, Gardella E, et al.
Brain
. 2017 Apr;
140(5):1316-1336.
PMID: 28379373
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients...
8.
Strehlow V, Swinkels M, Thomas R, Rapps N, Syrbe S, Dorn T, et al.
Mol Syndromol
. 2016 Oct;
7(4):239-246.
PMID: 27781034
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting...
9.
10.
Johannesen K, Marini C, Pfeffer S, Moller R, Dorn T, Niturad C, et al.
Neurology
. 2016 Aug;
87(11):1140-51.
PMID: 27521439
Objective: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. Methods: Patients with GABRA1 mutations were ascertained through an international collaboration....