Article
Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study.
Seizure - 1 Aug 2024
Paprocka Justyna, Steinborn Barbara, Krygier Magdalena, Winczewska-Wiktor Anna, Przyslo Lukasz, Hutny Michał, Hoffman-Zacharska Dorota, Mazurkiewicz Hanna, Kochanowska Iwona, Zebrowska Joanna, Zawadzka Marta, Piasecki Leszek, Mazurkiewicz-Beldzinska Maria
Abstract excerpt
BACKGROUND: Voltage-gated sodium channels are involved in the initial depolarisation of neurones. As such, they play important roles in neurotransmission. Variants in the genes encoding these channels may lead to altered functionality and neurodevelopmental disorders. Pathogenic variants of SCN8A, which encodes the voltage-gated Na+ channel Nav1.6, have been associated with various encephalopathies characterised...
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