STERBOVA , Katalin

Last name: STERBOVA

First name: Katalin

2015 (v1)

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De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, Steffen Hedrich, Ulrike B. S. Riesch, Erik

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Uploaded on: May 13, 2023
2016 (v1)

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, Iris M Helbig, Katherine L. Weckhuysen, Sarah

Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported...

Uploaded on: April 14, 2023
2014 (v1)

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Appenzeller, Silke Balling, Rudi Barisic, Nina

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Uploaded on: April 14, 2023
2022 (v1)

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Johannesen, Katrine M Liu, Yuanyuan Koko, Mahmoud

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Na(v)1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial...

Uploaded on: January 31, 2024

STERBOVA , Katalin

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