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Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad283
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- Publication type:
- Article
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 870, doi. 10.1002/ajmg.a.63085
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- Publication type:
- Article
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01413-y
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- Publication type:
- Article
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1363, doi. 10.1002/ajmg.a.62116
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- Publication type:
- Article
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
- Published in:
- 2018
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- Publication type:
- journal article