Epilepsia

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

Henry OJ, Ygberg S, Barbaro M, ..., Stödberg T, Wedell A

Epilepsia 66 (8) 2966-2979 [2025-08-00; online 2025-04-04]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.

Stödberg T, Tomson T, Barbaro M, ..., Åmark P, Wedell A

Epilepsia 61 (11) 2486-2499 [2020-11-00; online 2020-09-23]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Berger I, Dor T, Halvardson J, ..., Feuk L, Elpeleg O

Epilepsia 53 (8) 1436-1440 [2012-08-00; online 2012-06-12]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure