Publications:

---

Progressive Worsening of Gait and Motor Abnormalities in Older Adults With Dravet Syndrome.

Neurology

Selvarajah, Arunan A; Gorodetsky, Carolina C; Marques, Paula P; Zulfiqar Ali, Quratulain Q; Berg, Anne T AT; Fasano, Alfonso A; Andrade, Danielle M DM

Publication Date: 2022-05-31

Variant appearance in text: SCN1A: 524C>T

PubMed Link: 35418450

Variant Present in the following documents:

• WNL-2022-200538.pdf

View BVdb publication page

---

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes

Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021-08-07

Variant appearance in text: SCN1A: A175V

PubMed Link: 34436362

Variant Present in the following documents:

• Main text
• membranes-11-00599.pdf

View BVdb publication page

---

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: SCN1A: 524C>T; A175V

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

View BVdb publication page

---

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.

Frontiers In Neurology

Long, Shasha S; Zhou, Hao H; Li, Shuang S; Wang, Tianqi T; Ma, Yu Y; Li, Chunpei C; Zhou, Yuanfeng Y; Zhou, Shuizhen S; Wu, Bingbing B; Wang, Yi Y

Publication Date: 2019

Variant appearance in text: SCN1A: 524C>T; A175V

PubMed Link: 31139143

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 1

View BVdb publication page

---

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: 524C>T; A175V

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine

Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T

Publication Date: 2018-03-15

Variant appearance in text: SCN1A: A175V

PubMed Link: 29544535

Variant Present in the following documents:

• 13073_2018_529_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: 524C>T; Ala175Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

---

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: A175V

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

---

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics

Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS

Publication Date: 2014-01

Variant appearance in text: SCN1A: A175V

PubMed Link: 24136861

Variant Present in the following documents:

• Main text

View BVdb publication page

---