Tommy Stodberg
Overview
Explore the profile of Tommy Stodberg including associated specialties, affiliations and a list of published articles.
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Articles
28
Citations
664
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Recent Articles
1.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
2.
Chapman K, Ullah F, Yahiku Z, Kodiparthi S, Kellaris G, Correia S, et al.
medRxiv
. 2024 Jul;
PMID: 39006436
Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We report six pediatric patients who have heterozygous variants in...
3.
Tvergaard N, Tkemaladze T, Stodberg T, Kvarnung M, Tatton-Brown K, Baralle D, et al.
Clin Genet
. 2024 Jun;
106(4):427-436.
PMID: 38890806
Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four...
4.
Henry O, Stodberg T, Batelson S, Rasi C, Stranneheim H, Wedell A
Mol Genet Genomic Med
. 2023 Mar;
11(7):e2167.
PMID: 36967109
Background: The majority of genetic epilepsies remain unsolved in terms of specific genotype. Phenotype-based genomic analyses have shown potential to strengthen genomic analysis in various ways, including improving analytical efficacy....
5.
Sandvik U, Gordon L, Englund M, Fytagoridis A, Martin H, Jensdottir M, et al.
Lakartidningen
. 2022 Sep;
119.
PMID: 36082924
Epilepsy surgery should be considered for individuals with drug-resistant focal epilepsy. The pre-surgical evaluation is highly multi-disciplinary and performed by a team consisting of neurologists, neurophysiologists, neurosurgeons, neuroradiologists, neuropsychologists, biomedical...
6.
Aquilano G, Linner A, Ygberg S, Stodberg T, Henckel E
Front Pediatr
. 2022 Aug;
10:940103.
PMID: 35967578
Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms...
7.
Stodberg T, Tomson T, Anderlid B, Andersson T, Henry O, Amark P, et al.
Epilepsia
. 2022 Jun;
63(8):2096-2107.
PMID: 35652437
Objective: Existing data suggest that epilepsy presenting in the first few years of life carries a worse prognosis than later onset. However, studies are few and methods differ, making interpretations...
8.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, et al.
Genome Med
. 2021 Mar;
13(1):40.
PMID: 33726816
Background: We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD)...
9.
Klockner C, Sticht H, Zacher P, Popp B, Babcock H, Bakker D, et al.
Genet Med
. 2021 Mar;
23(4):796.
PMID: 33686260
No abstract available.
10.
Klockner C, Sticht H, Zacher P, Popp B, Babcock H, Bakker D, et al.
Genet Med
. 2020 Dec;
23(4):653-660.
PMID: 33299146
Purpose: This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals....