SCN4A c.3917G>A ;(p.G1306E)

Variant ID: 17-62021206-C-T

NM_000334.4(SCN4A):c.3917G>A;(p.G1306E)

This variant was identified in 45 publications

View GRCh38 version.




Publications:


Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology
Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N
Publication Date: 2023-03-06

Variant appearance in text: SCN4A: G1306E
PubMed Link: 36877742
Variant Present in the following documents:
  • pcbi.1010959.s004.pdf
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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: 3917G>A; Gly1306Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.

Frontiers In Neurology
Pagliarani, Serena S; Meola, Giovanni G; Filareti, Melania M; Comi, Giacomo Pietro GP; Lucchiari, Sabrina S
Publication Date: 2022

Variant appearance in text: SCN4A: Gly1306Glu
PubMed Link: 36081873
Variant Present in the following documents:
  • Main text
  • fneur-13-845383.pdf
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Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.

Biology
Lee, Ming-Jen MJ; Lin, Pi-Chen PC; Lin, Ming-Hong MH; Chiou, Hsin-Ying Clair HC; Wang, Kai K; Huang, Chiung-Wei CW
Publication Date: 2022-04-18

Variant appearance in text: SCN4A: G1306E
PubMed Link: 35453812
Variant Present in the following documents:
  • Main text
  • biology-11-00613.pdf
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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: SCN4A: G1306E
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
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Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Bmc Neurology
Nan, Haitian H; Wu, Yunqing Y; Cui, Shilei S; Sun, Houliang H; Wang, Jiawei J; Li, Ying Y; Meng, Lingchao L; Nagasaka, Takamura T; Wu, Liyong L
Publication Date: 2022-01-07

Variant appearance in text: Nav1.4: G1306E
PubMed Link: 34996390
Variant Present in the following documents:
  • Main text
  • 12883_2021_Article_2538.pdf
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Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Bmc Neurology
Nan, Haitian H; Wu, Yunqing Y; Cui, Shilei S; Sun, Houliang H; Wang, Jiawei J; Li, Ying Y; Meng, Lingchao L; Nagasaka, Takamura T; Wu, Liyong L
Publication Date: 2022-01-07

Variant appearance in text: Nav1.4: G1306E
PubMed Link: 34996390
Variant Present in the following documents:
  • Main text
  • 12883_2021_Article_2538.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: SCN4A: 3917G>A; G1306E
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
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: G1306E
PubMed Link: 34671263
Variant Present in the following documents:
  • fphar-12-751095.pdf
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Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.

Biomedicines
Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Lin, Pi-Chen PC; Lee, Ming-Jen MJ
Publication Date: 2021-01-08

Variant appearance in text: SCN4A: G1306E
PubMed Link: 33430134
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00051.pdf
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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Journal Of Neuromuscular Diseases
Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B
Publication Date: 2021

Variant appearance in text: SCN4A: 3917G>A
PubMed Link: 33325393
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200582.pdf
View BVdb publication page



Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.

The Journal Of General Physiology
Nathan, Sara S; Gabelli, Sandra B SB; Yoder, Jesse B JB; Srinivasan, Lakshmi L; Aldrich, Richard W RW; Tomaselli, Gordon F GF; Ben-Johny, Manu M; Amzel, L Mario LM
Publication Date: 2021-01-04

Variant appearance in text: SCN4A: G1306E
PubMed Link: 33306788
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: SCN4A: 3917G>A; G1306E
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: 3917G>A
PubMed Link: 32849172
Variant Present in the following documents:
  • Main text
View BVdb publication page



Treatment Updates for Neuromuscular Channelopathies.

Current Treatment Options In Neurology
Jitpimolmard, Nantaporn N; Matthews, Emma E; Fialho, Doreen D
Publication Date: 2020

Variant appearance in text: SCN4A: G1306E
PubMed Link: 32848354
Variant Present in the following documents:
  • Main text
  • 11940_2020_Article_644.pdf
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Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.

Wellcome Open Research
Cea, Gabriel G; Andreu, Daniel D; Fletcher, Elaine E; Ramdas, Sithara S; Sud, Richa R; Hanna, Michael G MG; Matthews, Emma E
Publication Date: 2020

Variant appearance in text: SCN4A: 3917G>A; Gly1306Glu
PubMed Link: 32509969
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-17445.pdf
View BVdb publication page



Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Plos One
Zhao, Chenyu C; Tang, DongFang D; Huang, Hui H; Tang, Haiyan H; Yang, Yuan Y; Yang, Min M; Luo, Yingying Y; Tao, Huai H; Tang, Jianguang J; Zhou, Xi X; Shi, Xiaoliu X
Publication Date: 2020

Variant appearance in text: SCN4A: G1306E
PubMed Link: 32407401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.

International Journal Of Molecular Sciences
Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Lin, Pi-Chen PC; Lee, Ming-Jen MJ
Publication Date: 2020-04-08

Variant appearance in text: SCN4A: G1306E
PubMed Link: 32276507
Variant Present in the following documents:
  • Main text
  • ijms-21-02593.pdf
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Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.

Frontiers In Neurology
Elia, Nathaniel N; Nault, Trystan T; McMillan, Hugh J HJ; Graham, Gail E GE; Huang, Lijia L; Cannon, Stephen C SC
Publication Date: 2020

Variant appearance in text: SCN4A: Gly1306Glu
PubMed Link: 32117035
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Frontiers In Neurology
Morales, Fernando F; Pusch, Michael M
Publication Date: 2019

Variant appearance in text: SCN4A: 3917G>A
PubMed Link: 32010054
Variant Present in the following documents:
  • Main text
  • fneur-10-01404.pdf
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: SCN4A: 3917G>A
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Possible role of SCN4A skeletal muscle mutation in apnea during seizure.

Epilepsia Open
Türkdoğan, Dilşad D; Matthews, Emma E; Usluer, Sunay S; Gündoğdu, Aslı A; Uluç, Kayıhan K; Mannikko, Roope R; Hanna, Michael G MG; Sisodiya, Sanjay M SM; Çağlayan, Hande S HS
Publication Date: 2019-09

Variant appearance in text: SCN4A: G1306E
PubMed Link: 31440732
Variant Present in the following documents:
  • EPI4-4-498.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: G1306E
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.

Frontiers In Neurology
Cavalli, Michele M; Fossati, Barbara B; Vitale, Raffaele R; Brigonzi, Elisa E; Ricigliano, Vito A G VAG; Saraceno, Lorenzo L; Cardani, Rosanna R; Pappone, Carlo C; Meola, Giovanni G
Publication Date: 2018

Variant appearance in text: SCN4A: G1306E
PubMed Link: 29899727
Variant Present in the following documents:
  • Main text
  • fneur-09-00385.pdf
View BVdb publication page



Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Lehmann-Horn, Frank F; D'Amico, Adele A; Bertini, Enrico E; Lomonaco, Mauro M; Merlini, Luciano L; Nelson, Kevin R KR; Philippi, Heike H; Siciliano, Gabriele G; Spaans, Frank F; Jurkat-Rott, Karin K
Publication Date: 2017-09

Variant appearance in text: SCN4A: 3917G>A
PubMed Link: 29774303
Variant Present in the following documents:
  • Main text
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: G1306E
PubMed Link: 29605429
Variant Present in the following documents:
  • mmc1.pdf
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: G1306E
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.

Frontiers In Pharmacology
Imbrici, Paola P; Liantonio, Antonella A; Camerino, Giulia M GM; De Bellis, Michela M; Camerino, Claudia C; Mele, Antonietta A; Giustino, Arcangela A; Pierno, Sabata S; De Luca, Annamaria A; Tricarico, Domenico D; Desaphy, Jean-Francois JF; Conte, Diana D
Publication Date: 2016

Variant appearance in text: Nav1.4: G1306E
PubMed Link: 27242528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Neurology
Desaphy, Jean-François JF; Carbonara, Roberta R; D'Amico, Adele A; Modoni, Anna A; Roussel, Julien J; Imbrici, Paola P; Pagliarani, Serena S; Lucchiari, Sabrina S; Lo Monaco, Mauro M; Conte Camerino, Diana D
Publication Date: 2016-05-31

Variant appearance in text: SCN4A: G1306E
PubMed Link: 27164696
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2015695692.pdf
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Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

Iranian Journal Of Neurology
Heidari, Mohammad Mehdi MM; Khatami, Mehri M; Nafissi, Shahriar S; Hesami-Zokai, Faezeh F; Khorrami, Afshin A
Publication Date: 2015-10-07

Variant appearance in text: SCN4A: G1306E
PubMed Link: 26885337
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology
Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F
Publication Date: 2015

Variant appearance in text: Nav1.4: G1306E
PubMed Link: 26834636
Variant Present in the following documents:
  • Main text
  • fphar-06-00314.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: G1306E
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: G1306E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy.

European Journal Of Clinical Pharmacology
Desaphy, Jean-François JF; Modoni, Anna A; Lomonaco, Mauro M; Camerino, Diana Conte DC
Publication Date: 2013-04

Variant appearance in text: Nav1.4: G1306E
PubMed Link: 23052413
Variant Present in the following documents:
  • Main text
  • 228_2012_Article_1414.pdf
View BVdb publication page



Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

The Journal Of Physiology
Zhao, Juan J; Duprè, Nicolas N; Puymirat, Jack J; Chahine, Mohamed M
Publication Date: 2012-06-01

Variant appearance in text: SCN4A: G1306E
PubMed Link: 22250216
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: G1306E
PubMed Link: 22016737
Variant Present in the following documents:
  • Main text
  • fphar-02-00063.pdf
View BVdb publication page



A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Human Mutation
Kubota, Tomoya T; Roca, Xavier X; Kimura, Takashi T; Kokunai, Yosuke Y; Nishino, Ichizo I; Sakoda, Saburo S; Krainer, Adrian R AR; Takahashi, Masanori P MP
Publication Date: 2011-07

Variant appearance in text: SCN4A: G1306E
PubMed Link: 21412952
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular determinants of state-dependent block of voltage-gated sodium channels by pilsicainide.

British Journal Of Pharmacology
Desaphy, J-F JF; Dipalma, A A; Costanza, T T; Bruno, C C; Lentini, G G; Franchini, C C; George, Al A; Conte Camerino, D D
Publication Date: 2010-07

Variant appearance in text: SCN4A: G1306E
PubMed Link: 20590641
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: SCN4A: G1306E
PubMed Link: 20237798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Lee, Sang-Chan SC; Kim, Hyang-Sook HS; Park, Yeong-Eun YE; Choi, Young-Chul YC; Park, Kyu-Hyun KH; Kim, Dae-Seong DS
Publication Date: 2009-12

Variant appearance in text: SCN4A: 3917G>A
PubMed Link: 20076800
Variant Present in the following documents:
  • Main text
  • jcn-5-186.pdf
View BVdb publication page



The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Brain : A Journal Of Neurology
Matthews, E E; Fialho, D D; Tan, S V SV; Venance, S L SL; Cannon, S C SC; Sternberg, D D; Fontaine, B B; Amato, A A AA; Barohn, R J RJ; Griggs, R C RC; Hanna, M G MG; ,
Publication Date: 2010-01

Variant appearance in text: SCN4A: G1306E
PubMed Link: 19917643
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epicardial border zone overexpression of skeletal muscle sodium channel SkM1 normalizes activation, preserves conduction, and suppresses ventricular arrhythmia: an in silico, in vivo, in vitro study.

Circulation
Lau, David H DH; Clausen, Chris C; Sosunov, Eugene A EA; Shlapakova, Iryna N IN; Anyukhovsky, Evgeny P EP; Danilo, Peter P; Rosen, Tove S TS; Kelly, Caitlin C; Duffy, Heather S HS; Szabolcs, Matthias J MJ; Chen, Ming M; Robinson, Richard B RB; Lu, Jia J; Kumari, Sinhu S; Cohen, Ira S IS; Rosen, Michael R MR
Publication Date: 2009-01-06

Variant appearance in text: SkM1: G1306E
PubMed Link: 19103989
Variant Present in the following documents:
  • Main text
View BVdb publication page



The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.

Genetics
Lindsay, Helen A HA; Baines, Richard R; ffrench-Constant, Richard R; Lilley, Kathryn K; Jacobs, Howard T HT; O'Dell, Kevin M C KM
Publication Date: 2008-10

Variant appearance in text: SCN4A: G1306E
PubMed Link: 18723887
Variant Present in the following documents:
  • Main text
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Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

The Journal Of Physiology
Takahashi, M P MP; Cannon, S C SC
Publication Date: 2001-12-15

Variant appearance in text: SkM1: G1306E
PubMed Link: 11744749
Variant Present in the following documents:
  • Main text
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Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.

The Journal Of General Physiology
Hayward, L J LJ; Brown, R H RH; Cannon, S C SC
Publication Date: 1996-05

Variant appearance in text: SkM1: G1306E
PubMed Link: 8740371
Variant Present in the following documents:
  • jg1075559.pdf
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