Associated Papers
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Sparber P et al.
Brain : a Journal of Neurology, 2024
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S et al.
European Journal of Human Genetics : Ejhg, 2022
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
Gokben S et al.
Acta Neurologica Belgica, 2017
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