Publications:

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: G177E

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: SCN1A: 530G>A; G177E

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN1A: G177E

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: SCN1A: G177E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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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: 530G>A; G177E

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: G177E

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology

Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA

Publication Date: 2016-09

Variant appearance in text: SCN1A: 530G>A; Gly177Glu

PubMed Link: 27781031

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G177E; rs121918770

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: G177E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.

Plos One

Verbeek, Nienke E NE; van der Maas, Nicoline A T NA; Jansen, Floor E FE; van Kempen, Marjan J A MJ; Lindhout, Dick D; Brilstra, Eva H EH

Publication Date: 2013

Variant appearance in text: SCN1A: Gly177Glu

PubMed Link: 23762420

Variant Present in the following documents:

• Main text
• pone.0065758.pdf

View BVdb publication page

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