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: 4325T>A; Val1442Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: SCN4A: V1442E

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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: SCN4A: Val1442Glu

PubMed Link: 34671263

Variant Present in the following documents:

• Main text
• fphar-12-751095.pdf

View BVdb publication page

---

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: SCN4A: V1442E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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: V1442E

PubMed Link: 30824560

Variant Present in the following documents:

• Main text
• NEUROLOGY2018928069.pdf

View BVdb publication page

---

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Lancet (London, England)

Männikkö, Roope R; Wong, Leonie L; Tester, David J DJ; Thor, Michael G MG; Sud, Richa R; Kullmann, Dimitri M DM; Sweeney, Mary G MG; Leu, Costin C; Sisodiya, Sanjay M SM; FitzPatrick, David R DR; Evans, Margaret J MJ; Jeffrey, Iona J M IJM; Tfelt-Hansen, Jacob J; Cohen, Marta C MC; Fleming, Peter J PJ; Jaye, Amie A; Simpson, Michael A MA; Ackerman, Michael J MJ; Hanna, Michael G MG; Behr, Elijah R ER; Matthews, Emma E

Publication Date: 2018-04-14

Variant appearance in text: SCN4A: Val1442Glu

PubMed Link: 29605429

Variant Present in the following documents:

• Main text
• main.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: 4325T>A; Val1442Glu

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: V1442E

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

---

Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.

Brain : A Journal Of Neurology

Wu, Fenfen F; Mi, Wentao W; Fu, Yu Y; Struyk, Arie A; Cannon, Stephen C SC

Publication Date: 2016-06

Variant appearance in text: SCN4A: V1442E

PubMed Link: 27048647

Variant Present in the following documents:

• Main text

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: V1442E

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology

Habbout, Karima K; Poulin, Hugo H; Rivier, François F; Giuliano, Serena S; Sternberg, Damien D; Fontaine, Bertrand B; Eymard, Bruno B; Morales, Raul Juntas RJ; Echenne, Bernard B; King, Louise L; Hanna, Michael G MG; Männikkö, Roope R; Chahine, Mohamed M; Nicole, Sophie S; Bendahhou, Said S

Publication Date: 2016-01-12

Variant appearance in text: SCN4A: V1442E

PubMed Link: 26659129

Variant Present in the following documents:

• Main text

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: V1442E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Channelopathies of skeletal muscle excitability.

Comprehensive Physiology

Cannon, Stephen C SC

Publication Date: 2015-04

Variant appearance in text: SCN4A: V1442E

PubMed Link: 25880512

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

The Lancet. Neurology

Engel, Andrew G AG; Shen, Xin-Ming XM; Selcen, Duygu D; Sine, Steven M SM

Publication Date: 2015-04

Variant appearance in text: Nav1.4: V1442E

PubMed Link: 25792100

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Current status of the congenital myasthenic syndromes.

Neuromuscular Disorders : Nmd

Engel, Andrew G AG

Publication Date: 2012-02

Variant appearance in text: SCN4A: V1442E

PubMed Link: 22104196

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: V1442E

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

View BVdb publication page

---

Congenital myasthenic syndromes in 2012.

Current Neurology And Neuroscience Reports

Engel, Andrew G AG

Publication Date: 2012-02

Variant appearance in text: SCN4A: V1442E

PubMed Link: 21997714

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sodium channelopathies of skeletal muscle result from gain or loss of function.

Pflugers Archiv : European Journal Of Physiology

Jurkat-Rott, Karin K; Holzherr, Boris B; Fauler, Michael M; Lehmann-Horn, Frank F

Publication Date: 2010-07

Variant appearance in text: Nav1.4: V1442E

PubMed Link: 20237798

Variant Present in the following documents:

• Main text
• 424_2010_Article_814.pdf

View BVdb publication page

---

Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

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

Tsujino, Akira A; Maertens, Chantal C; Ohno, Kinji K; Shen, Xin-Ming XM; Fukuda, Taku T; Harper, C Michael CM; Cannon, Stephen C SC; Engel, Andrew G AG

Publication Date: 2003-06-10

Variant appearance in text: SCN4A: V1442E

PubMed Link: 12766226

Variant Present in the following documents:

• Main text

View BVdb publication page

---