Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN4A: 3395G>A; Arg1132Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Frontiers In Pharmacology

Nicole, Sophie S; Lory, Philippe P

Publication Date: 2021

Variant appearance in text: Nav1.4: Arg1132Gln

PubMed Link: 34671263

Variant Present in the following documents:

• Main text
• fphar-12-751095.pdf

View BVdb publication page

---

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Frontiers In Neurology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Tonin, Paola P; Saletti, Veronica V; Sola, Patrizia P; Piccinelli, Stefano Cotti SC; Colleoni, Lara L; Ferrigno, Paola P; Pini, Antonella A; Masson, Riccardo R; Manganelli, Fiore F; Lietti, Daniele D; Vercelli, Liliana L; Ricci, Giulia G; Bruno, Claudio C; Tasca, Giorgio G; Pizzuti, Antonio A; Padovani, Alessandro A; Fusco, Carlo C; Pegoraro, Elena E; Ruggiero, Lucia L; Ravaglia, Sabrina S; Siciliano, Gabriele G; Morandi, Lucia L; Dubbioso, Raffaele R; Mongini, Tiziana T; Filosto, Massimiliano M; Tramacere, Irene I; Mantegazza, Renato R; Bernasconi, Pia P

Publication Date: 2020

Variant appearance in text: SCN4A: 3395G>A

PubMed Link: 32849172

Variant Present in the following documents:

• Main text
• fneur-11-00646.pdf

View BVdb publication page

---

PharmGKB summary: very important pharmacogene information for CACNA1S.

Pharmacogenetics And Genomics

Sangkuhl, Katrin K; Dirksen, Robert T RT; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2020-02

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 31851124

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SCN4A: 3395G>A; Arg1132Gln; rs80338789

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.

Frontiers In Pharmacology

Myshkin, Mikhail Yu MY; Männikkö, Roope R; Krumkacheva, Olesya A OA; Kulbatskii, Dmitrii S DS; Chugunov, Anton O AO; Berkut, Antonina A AA; Paramonov, Alexander S AS; Shulepko, Mikhail A MA; Fedin, Matvey V MV; Hanna, Michael G MG; Kullmann, Dimitri M DM; Bagryanskaya, Elena G EG; Arseniev, Alexander S AS; Kirpichnikov, Mikhail P MP; Lyukmanova, Ekaterina N EN; Vassilevski, Alexander A AA; Shenkarev, Zakhar O ZO

Publication Date: 2019

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 31555136

Variant Present in the following documents:

• Main text
• fphar-10-00953.pdf

View BVdb publication page

---

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Neurology

Elia, Nathaniel N; Palmio, Johanna J; Castañeda, Marisol Sampedro MS; Shieh, Perry B PB; Quinonez, Marbella M; Suominen, Tiina T; Hanna, Michael G MG; Männikkö, Roope R; Udd, Bjarne B; Cannon, Stephen C SC

Publication Date: 2019-03-26

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 30824560

Variant Present in the following documents:

• Main text
• NEUROLOGY2018928069.pdf

View BVdb publication page

---

Spider toxin inhibits gating pore currents underlying periodic paralysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Männikkö, Roope R; Shenkarev, Zakhar O ZO; Thor, Michael G MG; Berkut, Antonina A AA; Myshkin, Mikhail Yu MY; Paramonov, Alexander S AS; Kulbatskii, Dmitrii S DS; Kuzmin, Dmitry A DA; Sampedro Castañeda, Marisol M; King, Louise L; Wilson, Emma R ER; Lyukmanova, Ekaterina N EN; Kirpichnikov, Mikhail P MP; Schorge, Stephanie S; Bosmans, Frank F; Hanna, Michael G MG; Kullmann, Dimitri M DM; Vassilevski, Alexander A AA

Publication Date: 2018-04-24

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 29636418

Variant Present in the following documents:

• Main text
• pnas.201720185SI.pdf
• pnas.201720185.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN4A: 3395G>A; Arg1132Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: HYPP: R1132Q

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

---

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: HYPP: R1132Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: SCN4A: R1132Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: SCN4A: Arg1132Gln

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

---

Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology

Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F

Publication Date: 2012

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 22701429

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: R1132Q

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

View BVdb publication page

---

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

The Journal Of Clinical Investigation

Wu, Fenfen F; Mi, Wentao W; Burns, Dennis K DK; Fu, Yu Y; Gray, Hillery F HF; Struyk, Arie F AF; Cannon, Stephen C SC

Publication Date: 2011-10

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 21881211

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

Neurology

Francis, David G DG; Rybalchenko, Volodymyr V; Struyk, Arie A; Cannon, Stephen C SC

Publication Date: 2011-05-10

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 21490317

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A practical approach to genetic hypokalemia.

Electrolyte & Blood Pressure : E & Bp

Lin, Shih-Hua SH; Yang, Sung-Sen SS; Chau, Tom T

Publication Date: 2010-06

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 21468196

Variant Present in the following documents:

• Main text
• ebp-8-38.pdf

View BVdb publication page

---

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

Neurology

Matthews, E E; Labrum, R R; Sweeney, M G MG; Sud, R R; Haworth, A A; Chinnery, P F PF; Meola, G G; Schorge, S S; Kullmann, D M DM; Davis, M B MB; Hanna, M G MG

Publication Date: 2009-05-05

Variant appearance in text: SCN4A: R1132Q

PubMed Link: 19118277

Variant Present in the following documents:

• Main text

View BVdb publication page

---