PMC Articles for MedGen (Select 113142) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 203

<< First< Prev

Page of 11

Select item 78906031.

Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia – a case report

Wei Shyan Siow, Wan-Ling Alyssa Chiew

BMC Anesthesiol. 2021; 21: 57. Published online 2021 Feb 18. doi: 10.1186/s12871-021-01262-4

PMCID:: PMC7890603

Article PubReader PDF–443K Cite

Select item 78265752.

Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita

Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming-Jen Lee

Biomedicines. 2021 Jan; 9(1): 51. Published online 2021 Jan 8. doi: 10.3390/biomedicines9010051

PMCID:: PMC7826575

Article PubReader PDF–3.5M Cite

Select item 77261743.

A case of paramyotonia congenita in pregnancy

EK Brooks, D Schweitzer, HL Robinson

Obstet Med. 2020 Dec; 13(4): 192–194. Published online 2019 Jan 31. doi: 10.1177/1753495X18816171

PMCID:: PMC7726174

Article PubReader PDF–198K Cite

Select item 66458394.

Analgesia and Anaesthesia Management of Labour and Caesarean Delivery for a Parturient with Paramyotonia Congenita

Nazuha Mohd Najid, Thohiroh Abdul Razak, Dudu Berrin Günaydın

Turk J Anaesthesiol Reanim. 2019 Aug; 47(4): 345–347. Published online 2019 Mar 12. doi: 10.5152/TJAR.2019.69094

PMCID:: PMC6645839

Article PubReader PDF–133K Cite

Select item 65270825.

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review

Shan Huang, Wei Zhang, Xueli Chang, Junhong Guo

Channels (Austin) 2019; 13(1): 110–119. Published online 2019 Apr 1. doi: 10.1080/19336950.2019.1600967

PMCID:: PMC6527082

Article PubReader PDF–1.3M Cite

Select item 63407136.

Open-Label Trial of Ranolazine for the Treatment of Paramyotonia Congenita

Samantha LoRusso, David Kline, Amy Bartlett, Miriam Freimer, Julie Agriesti, Ahmed A. Hawash, Mark M. Rich, John T. Kissel, W. David Arnold

Muscle Nerve. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Muscle Nerve. 2019 Feb; 59(2): 240–243. Published online 2018 Dec 21. doi: 10.1002/mus.26372

PMCID:: PMC6340713

Article PubReader PDF–440K Cite

Select item 57947477.

Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine

Sci Rep. 2018; 8: 2041. Published online 2018 Feb 1. doi: 10.1038/s41598-018-20468-0

PMCID:: PMC5794747

Article PubReader PDF–4.5M Cite

Select item 56858228.

N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita

Qing Ke, Jia Ye, Siyang Tang, Jin Wang, Benyan Luo, Fang Ji, Xu Zhang, Ye Yu, Xiaoyang Cheng, Yuezhou Li

J Physiol. 2017 Nov 15; 595(22): 6837–6850. Published online 2017 Oct 15. doi: 10.1113/JP274877

PMCID:: PMC5685822

Article PubReader PDF–1.5M Cite

Select item 45358639.

Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Jinxin Li, Qinghai Huang, Liang Ge, Jing Xu, Xingjuan Shi, Wei Xie, Xiang Liu, Xiangdong Liu

Genom Data. 2015 Jun; 4: 65–68. Published online 2015 Mar 18. doi: 10.1016/j.gdata.2015.03.002

PMCID:: PMC4535863

Article PubReader PDF–590K Cite

Select item 305497010.

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

Dae-Seong Kim, Eun-Joo Kim, Dae-Soo Jung, Kyu-Hyun Park, In-Joo Kim, Ki-Young Kwak, Cheol-Min Kim, Hyun-Yoon Ko

J Korean Med Sci. 2002 Dec; 17(6): 856–860. doi: 10.3346/jkms.2002.17.6.856

PMCID:: PMC3054970

Summary PDF–200K Cite

Select item 234272411.

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

Bahram Mohammadi, Nenad Mitrovic, Frank Lehmann-Horn, Reinhard Dengler, Johannes Bufler

J Physiol. 2003 Mar 15; 547(Pt 3): 691–698. Published online 2003 Jan 24. doi: 10.1113/jphysiol.2002.033928

PMCID:: PMC2342724

Article PubReader PDF–218K Cite

Select item 226943812.

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

Saïd Bendahhou, Theodore R Cummins, Hubert Kwiecinski, Stephen G Waxman, Louis J Ptácek

J Physiol. 1999 Jul 15; 518(Pt 2): 337–344. doi: 10.1111/j.1469-7793.1999.0337p.x

PMCID:: PMC2269438

Article PubReader PDF–344K Cite

Select item 223083313.

Functional expression of the Ile693Thr Na⁺ channel mutation associated with paramyotonia congenita in a human cell line

Emmanuelle Plassart-Schiess, Loïc Lhuillier, Alfred L George, Jr, Bertrand Fontaine, Nacira Tabti

J Physiol. 1998 Mar 15; 507(Pt 3): 721–727. doi: 10.1111/j.1469-7793.1998.721bs.x

PMCID:: PMC2230833

Article PubReader PDF–450K Cite

Select item 223074214.

A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

David E Featherstone, Esther Fujimoto, Peter C Ruben

J Physiol. 1998 Feb 1; 506(Pt 3): 627–638. doi: 10.1111/j.1469-7793.1998.627bv.x

PMCID:: PMC2230742

Article PubReader PDF–612K Cite

Select item 221926415.

Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating

J Gen Physiol. 1996 Feb 1; 107(2): 183–194. doi: 10.1085/jgp.107.2.183

PMCID:: PMC2219264

Summary PDF–1016K Cite

Select item 173867216.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F Brancati, E Valente, N Davies, A Sarkozy, M Sweeney, M LoMonaco, A Pizzuti, M Hanna, B Dallapiccola

J Neurol Neurosurg Psychiatry. 2003 Sep; 74(9): 1339–1341. doi: 10.1136/jnnp.74.9.1339

PMCID:: PMC1738672

Summary PDF–86K Cite

Select item 173685117.

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

N Davies, L Eunson, R Gregory, K Mills, P Morrison, M Hanna

J Neurol Neurosurg Psychiatry. 2000 Apr; 68(4): 504–507. doi: 10.1136/jnnp.68.4.504

Correction in:: J Neurol Neurosurg Psychiatry. 2000 Jul; 69(1): 139.

PMCID:: PMC1736851

Summary PDF–222K Cite

Select item 168317218.

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

L J Ptacek, J S Trimmer, W S Agnew, J W Roberts, J H Petajan, M Leppert

Am J Hum Genet. 1991 Oct; 49(4): 851–854.

PMCID:: PMC1683172

Summary Page Browse PDF–558K Cite

Select item 168260919.

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

Andrea I. McClatchey, James Trofatter, Diane McKenna-Yasek, Wendy Raskind, Thomas Bird, Margaret Pericak-Vance, James Gilchrist, Kiichi Arahata, Danica Radosavljevic, Hilary G. Worthen, Peter Van den Bergh, Jonathan L. Haines, James F. Gusella, Robert H. Brown

Am J Hum Genet. 1992 May; 50(5): 896–901.