Associated Papers
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
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
Lack of pathogenic mutations in six patients with MMPSI.
De Filippo MR et al.
Epilepsy Research, 2014
Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
Dhamija R et al.
Pediatric Neurology, 2013
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
Freilich ER et al.
Archives of Neurology, 2011
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