Sarah von Spiczak
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Explore the profile of Sarah von Spiczak including associated specialties, affiliations and a list of published articles.
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58
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2056
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Recent Articles
1.
Maltseva M, Rosenow F, Schubert-Bast S, Flege S, Wolff M, von Spiczak S, et al.
Epilepsia
. 2023 Oct;
65(1):115-126.
PMID: 37846648
Objective: The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) and caregivers' knowledge about sudden unexpected death in...
2.
Maltseva M, Schubert-Bast S, Zollner J, Bast T, Mayer T, von Spiczak S, et al.
Orphanet J Rare Dis
. 2023 Apr;
18(1):98.
PMID: 37120555
Background: This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality. Methods: This...
3.
Chen S, Abou-Khalil B, Afawi Z, Ali Q, Amadori E, Anderson A, et al.
medRxiv
. 2023 Mar;
PMID: 36865150
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979...
4.
Strzelczyk A, Kurlemann G, Bast T, Bettendorf U, Kluger G, Mayer T, et al.
Neurol Res Pract
. 2022 Jun;
4(1):22.
PMID: 35659154
Background: In Dravet syndrome (DS), a rare epileptic and developmental encephalopathy, the effectiveness of a new treatment is predominantly measured in terms of seizure frequency. However, this may not fully...
5.
Krey I, von Spiczak S, Johannesen K, Hikel C, Kurlemann G, Muhle H, et al.
Neurotherapeutics
. 2022 Jan;
19(1):334-341.
PMID: 34997442
Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully...
6.
Yap Z, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, et al.
Am J Hum Genet
. 2021 Nov;
108(12):2368-2384.
PMID: 34800363
The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in...
7.
Herzog R, Hellenbroich Y, Bruggemann N, Lohmann K, Grimmel M, Haack T, et al.
Ann Clin Transl Neurol
. 2021 Jun;
8(7):1524-1527.
PMID: 34092044
We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants...
8.
Galer P, Ganesan S, Lewis-Smith D, McKeown S, Pendziwiat M, Helbig K, et al.
Am J Hum Genet
. 2020 Aug;
107(4):683-697.
PMID: 32853554
More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a...
9.
Brenner D, Baumgartner T, von Spiczak S, Lewerenz J, Weis R, Grimmer A, et al.
Neurol Res Pract
. 2020 Jun;
1.
PMID: 32587944
Background: Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in (Laforin) or (, Malin). The epidemiology of Lafora disease in...
10.
Moontaha S, Galka A, Siniatchkin M, Scharlach S, von Spiczak S, Stephani U, et al.
Annu Int Conf IEEE Eng Med Biol Soc
. 2020 Jan;
2019:616-619.
PMID: 31945973
In this paper a nonlinear filtering algorithm for count time series is developed that takes the non-negativity of the data into account and preserves positive definiteness of the covariance matrices...