Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
The effect of alterations of schizophrenia-associated genes on gamma band oscillations.
Metzner C et al.
Schizophrenia (heidelberg, Germany), 2022
35854005 (PubMed )
Supplement: 41537_2022_255_MOESM1_ESM.pdf
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
34755109 (PubMed )
Supplement: fcab235_supplementary_data.zip › Original_Submission.pdf
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.
Mäki-Marttunen T et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
30475994 (PubMed )
Supplement: bhy291_supplementary.pdf
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
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
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
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.
Volkers L et al.
The Journal of General Physiology, 2013
Neurological perspectives on voltage-gated sodium channels.
Eijkelkamp N et al.
Brain : a Journal of Neurology, 2012
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Volkers L et al.
The European Journal of Neuroscience, 2011
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