Publications:

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: SCN1A: 80G>C; R27T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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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: 80G>C; R27T

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Exome sequencing in 51 early onset non-familial CRC cases.

Molecular Genetics & Genomic Medicine

Thutkawkorapin, Jessada J; Lindblom, Annika A; Tham, Emma E

Publication Date: 2019-05

Variant appearance in text: SCN1A: R27T; rs121917906

PubMed Link: 30809968

Variant Present in the following documents:

• MGG3-7-e605-s002.xlsx, sheet 1

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: R27T

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

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Audit of use of stiripentol in adults with Dravet syndrome.

Acta Neurologica Scandinavica

Balestrini, S S; Sisodiya, S M SM

Publication Date: 2017-01

Variant appearance in text: SCN1A: 80G>C

PubMed Link: 27231140

Variant Present in the following documents:

• Main text
• ANE-135-73.pdf

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Plos One

Lal, Dennis D; Reinthaler, Eva M EM; Dejanovic, Borislav B; May, Patrick P; Thiele, Holger H; Lehesjoki, Anna-Elina AE; Schwarz, Günter G; Riesch, Erik E; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Steinböck, Hannelore H; Gruber-Sedlmayr, Ursula U; Neophytou, Birgit B; Zara, Federico F; Hahn, Andreas A; , ; , ; Gormley, Padhraig P; Becker, Felicitas F; Weber, Yvonne G YG; Cilio, Maria Roberta MR; Kunz, Wolfram S WS; Krause, Roland R; Zimprich, Fritz F; Lemke, Johannes R JR; Nürnberg, Peter P; Sander, Thomas T; Lerche, Holger H; Neubauer, Bernd A BA

Publication Date: 2016

Variant appearance in text: SCN1A: Arg27Thr; rs121917906

PubMed Link: 26990884

Variant Present in the following documents:

• Main text
• pone.0150426.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: R27T; rs121917906

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: R27T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: 80G>C

PubMed Link: 21719429

Variant Present in the following documents:

• Main text
• awr129.pdf

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