Christian M Bosselmann
Overview
Explore the profile of Christian M Bosselmann including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
14
Citations
67
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ivaniuk A, Bosselmann C, Zhang X, St John M, Taylor S, Krishnaswamy G, et al.
Genet Med Open
. 2024 Dec;
2:100842.
PMID: 39669599
Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD...
2.
Bosselmann C, Leu C, Brunger T, Hoffmann L, Baldassari S, Chipaux M, et al.
Nat Commun
. 2024 Nov;
15(1):10429.
PMID: 39616148
Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by epileptogenic lesions, including malformations of cortical development (MCD) and low-grade epilepsy-associated tumors (LEAT). Understanding the genetic etiology...
3.
Montanucci L, Brunger T, Bhattarai N, Bosselmann C, Kim S, Allen J, et al.
Hum Mol Genet
. 2024 Nov;
34(2):128-139.
PMID: 39535073
Genetic variants in the genes GRIN1, GRIN2A, GRIN2B, and GRIN2D, which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic and neurodevelopmental disorders, including...
4.
Montanucci L, Brunger T, Bosselmann C, Ivaniuk A, Perez-Palma E, Lhatoo S, et al.
Epilepsia
. 2024 Oct;
65(12):3655-3663.
PMID: 39440667
Objective: Determining the pathogenicity of missense variants in clinical genetic tests for individuals with epilepsy is crucial for guiding personalized treatment. However, achieving a definitive pathogenic classification remains challenging, with...
5.
Galer P, Parthasarathy S, Xian J, McKee J, Ruggiero S, Ganesan S, et al.
Genet Med
. 2024 Jul;
26(11):101211.
PMID: 39011766
Purpose: An early genetic diagnosis can guide the time-sensitive treatment of individuals with genetic epilepsies. However, most genetic diagnoses occur long after disease onset. We aimed to identify early clinical...
6.
Montanucci L, Brunger T, Bhattarai N, Bosselmann C, Kim S, Allen J, et al.
medRxiv
. 2024 May;
PMID: 38766179
Genetic variants in genes , , , and , which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic diseases. Missense variants in these...
7.
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records
Bosselmann C, Ivaniuk A, St John M, Taylor S, Krishnaswamy G, Milinovich A, et al.
Brain Commun
. 2024 Mar;
6(2):fcae090.
PMID: 38524155
Understanding the clinical characteristics and medical treatment of individuals affected by genetic epilepsies is instrumental in guiding selection for genetic testing, defining the phenotype range of these rare disorders, optimizing...
8.
Lyu H, Bosselmann C, Johannesen K, Koko M, Ortigoza-Escobar J, Aguilera-Albesa S, et al.
EBioMedicine
. 2024 Jan;
98:104855.
PMID: 38251463
Background: Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom of SCN8A variation has not been well studied. We set out...
9.
Bosselmann C, Kegele J, Zerweck L, Klose U, Ethofer S, Roder C, et al.
Clin Neuroradiol
. 2023 Dec;
34(2):315-324.
PMID: 38082172
Purpose: Individuals with drug-resistant epilepsy may benefit from epilepsy surgery. In nonlesional cases, where no epileptogenic lesion can be detected on structural magnetic resonance imaging, multimodal neuroimaging studies are required....
10.
Bosselmann C, Leu C, Lal D
Neurobiol Dis
. 2023 Jun;
184:106208.
PMID: 37343892
Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly. Recent advances in sequencing and variant calling technologies have...