Tommy Stödberg

Karolinska University Hospital — Sweden

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index2.7kcitations49works2.12yr avg
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Research Topics

Genomics and Rare Diseases(21), Epilepsy research and treatment(16), Genetics and Neurodevelopmental Disorders(14), Genomic variations and chromosomal abnormalities(7), Metabolism and Genetic Disorders(6)

Publications48 total

Phenotypic and transcriptomic characterisation of a novel biallelic <i>RNU2-2</i> developmental and epileptic encephalopathy
2026Open Access
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic <i>GABRB2</i> and <i>GABRB3</i> variants
Epilepsia·2026Open Access
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent <scp> <i>GABRG2</i> </scp> p.( <scp>Ala106Thr</scp> ) gain‐of‐function variant: Structural and phenotypic insights
Epilepsia·2025
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic <i>GABRB2</i> and <i>GABRB3</i> variants
2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
The American Journal of Human Genetics·2025· 1 citedOpen Access
Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants
Universität Zürich, ZORA·2025Open Access
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants
Neurology·2025· 6 citedOpen Access
The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2025· 3 citedOpen Access
Leukopenia in Children on Antiseizure Medication is Common and Has Minor Clinical Impact
The Journal of Pediatrics·2025Open Access
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals
Epilepsia·2025· 5 citedOpen Access
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy
Brain Communications·2025· 6 citedOpen Access
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Genetics in Medicine·2024· 4 citedOpen Access
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
2024· 1 citedOpen Access
Unraveling <i>GRIA1</i> neurodevelopmental disorders: Lessons learned from the p.(<scp>Ala636Thr</scp>) variant
Clinical Genetics·2024· 4 citedOpen Access
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies
Molecular Genetics & Genomic Medicine·2023· 3 citedOpen Access
[Epilepsy surgery seems underutilized in Sweden].
PubMed·2022
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
Frontiers in Pediatrics·2022· 11 citedOpen Access
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study
Epilepsia·2022· 11 citedOpen Access
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Genome Medicine·2021· 254 citedOpen Access
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Genetics in Medicine·2021· 2 citedOpen Access
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Frequent Co-authors

Henrik Stranneheim(8), Nicole Lesko(8), Britt‐Marie Anderlid(7), Michela Barbaro(7), Sofia Ygberg(7), Manju A. Kurian(7), Anna Wedell(7), Malin Kvarnung(6), Virpi Töhönen(6), Anna Lindstrand(6), Anna Wedell(6), Kristina Lagerstedt‐Robinson(5), Daniel Nilsson(5), Chiara Rasi(5), Anna Wredenberg(5), Ann Nordgren(5), Amy McTague(5), Ingrid E. Scheffer(5), Rikke S. Møller(5), Olivia J. Henry(5)