Julian Schubert
Overview
Explore the profile of Julian Schubert including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
694
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Recent Articles
1.
Koko M, Elseed M, Mohammed I, Hamed A, Abd Allah A, Yahia A, et al.
Eur J Hum Genet
. 2024 Feb;
32(10):1338-1342.
PMID: 38316952
Heterozygous PRRT2 variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability....
2.
Kruger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, et al.
EBioMedicine
. 2022 Sep;
84:104244.
PMID: 36088682
Background: De novo missense variants in KCNQ5, encoding the voltage-gated K channel K7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out...
3.
Johannesen K, Liu Y, Koko M, Gjerulfsen C, Sonnenberg L, Schubert J, et al.
Brain
. 2021 Aug;
145(9):2991-3009.
PMID: 34431999
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related...
4.
Vardar G, Gerth F, Schmitt X, Rautenstrauch P, Trimbuch T, Schubert J, et al.
Brain
. 2020 Jun;
143(7):2119-2138.
PMID: 32572454
Syntaxin 1B (STX1B) is a core component of the N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex that is critical for the exocytosis of synaptic vesicles in the presynapse. SNARE-mediated vesicle...
5.
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...
6.
Liu Y, Schubert J, Sonnenberg L, Helbig K, Hoei-Hansen C, Koko M, et al.
Brain
. 2019 Jan;
142(2):376-390.
PMID: 30615093
Ion channel mutations can cause distinct neuropsychiatric diseases. We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K)...
7.
Jabbari K, Bobbili D, Lal D, Reinthaler E, Schubert J, Wolking S, et al.
PLoS One
. 2018 Aug;
13(8):e0202022.
PMID: 30148849
Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk...
8.
May P, Girard S, Harrer M, Bobbili D, Schubert J, Wolking S, et al.
Lancet Neurol
. 2018 Jul;
17(8):699-708.
PMID: 30033060
Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We...
9.
Li M, Maljevic S, Phillips A, Petrovski S, Hildebrand M, Burgess R, et al.
Hum Mutat
. 2017 Oct;
39(2):202-209.
PMID: 29064616
Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis,...
10.
Niturad C, Lev D, Kalscheuer V, Charzewska A, Schubert J, Lerman-Sagie T, et al.
Brain
. 2017 Oct;
140(11):2879-2894.
PMID: 29053855
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased...