Associated Papers
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
A novel GABAergic dysfunction in human Dravet syndrome.
Ruffolo G et al.
Epilepsia, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Sadleir LG et al.
Neurology, 2017
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB et al.
Brain : a Journal of Neurology, 2011
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