Publications:

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology

Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I

Publication Date: 2019

Variant appearance in text: SCN1A: 677C>A; T226K

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 677C>A; Thr226Lys

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology

Sadleir, Lynette G LG; Mountier, Emily I EI; Gill, Deepak D; Davis, Suzanne S; Joshi, Charuta C; DeVile, Catherine C; Kurian, Manju A MA; , ; Mandelstam, Simone S; Wirrell, Elaine E; Nickels, Katherine C KC; Murali, Hema R HR; Carvill, Gemma G; Myers, Candace T CT; Mefford, Heather C HC; Scheffer, Ingrid E IE

Publication Date: 2017-09-05

Variant appearance in text: SCN1A: Thr226Lys

PubMed Link: 28794249

Variant Present in the following documents:

• Main text
• NEUROLOGY2016790519.pdf

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Brain : A Journal Of Neurology

Catarino, Claudia B CB; Liu, Joan Y W JY; Liagkouras, Ioannis I; Gibbons, Vaneesha S VS; Labrum, Robyn W RW; Ellis, Rachael R; Woodward, Cathy C; Davis, Mary B MB; Smith, Shelagh J SJ; Cross, J Helen JH; Appleton, Richard E RE; Yendle, Simone C SC; McMahon, Jacinta M JM; Bellows, Susannah T ST; Jacques, Thomas S TS; Zuberi, Sameer M SM; Koepp, Matthias J MJ; Martinian, Lillian L; Scheffer, Ingrid E IE; Thom, Maria M; Sisodiya, Sanjay M SM

Publication Date: 2011-10

Variant appearance in text: SCN1A: 677C>A

PubMed Link: 21719429

Variant Present in the following documents:

• Main text
• awr129.pdf

View BVdb publication page