Tommy I. Stodberg

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 40 publications

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches.

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches.

Journal: Epilepsia

Published: March 19, 2026

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: February 25, 2026

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Journal: Epilepsia

Published: October 11, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.

Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.

Journal: Genome research

Published: September 25, 2025

Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.

Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.

Journal: Genome research

Published: September 25, 2025

Cenobamate use for drug-resistant epilepsy in children: A real-world single-center study.

Cenobamate use for drug-resistant epilepsy in children: A real-world single-center study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 02, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Journal: Neurology

Published: June 26, 2025

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Journal: Genome medicine

Published: May 31, 2025

Leukopenia in Children on Antiseizure Medication is Common and Has Minor Clinical Impact.

Leukopenia in Children on Antiseizure Medication is Common and Has Minor Clinical Impact.

Journal: The Journal of pediatrics

Published: February 13, 2025

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Journal: Epilepsia

Published: November 19, 2024

Showing 1-12 of 40

Last Updated: 09/26/2026