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Hyperkalemic periodic paralysis

B C Stunnenberg, J Raaphorst, J C W Deenen, T P Links, A A Wilde, D J Verbove, E J Kamsteeg, A van den Wijngaard, C G Faber, G J van der Wilt, B G M van Engelen, G Drost, H B Ginjaar
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100...
March 9, 2018: Neuromuscular Disorders: NMD
Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine
Mutations in NaV 1.4, the skeletal muscle voltage-gated Na+ channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated individuals. The first individual was diagnosed with non-dystrophic myotonia, whereas the second suffered from an unusual phenotype combining hyperkalemic and hypokalemic episodes of periodic paralysis (PP)...
February 1, 2018: Scientific Reports
Jeffrey M Statland, Bertrand Fontaine, Michael G Hanna, Nicholas E Johnson, John T Kissel, Valeria A Sansone, Perry B Shieh, Rabi N Tawil, Jaya Trivedi, Stephen C Cannon, Robert C Griggs
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing...
April 2018: Muscle & Nerve
Stephen C Cannon
The NaV 1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na+ current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV 1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia...
September 23, 2017: Handbook of Experimental Pharmacology
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
May 2017: Pediatric Neurology
Josef Finsterer, Salma Majid Wakil, Franco Laccone
No abstract text is available yet for this article.
January 2017: Annals of Indian Academy of Neurology
Jihane N Benhammou, Jennifer Phan, Hane Lee, Kevin Ghassemi, William Parsons, Wayne W Grody, Joseph R Pisegna
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.
March 2017: Journal of Molecular Neuroscience: MN
C Fan, N Mao, F Lehmann-Horn, J Bürmann, K Jurkat-Rott
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP families) in Germany. Surprisingly, in 13 families, a known polymorphism S906T was also present. It was on the affected allele in at least 10 families compatible with a possible founder effect in central Europe...
June 2017: Clinical Genetics
Valeria A Sansone, James Burge, Michael P McDermott, Patty C Smith, Barbara Herr, Rabi Tawil, Shree Pandya, John Kissel, Emma Ciafaloni, Perry Shieh, Jeffrey W Ralph, Antony Amato, Steve C Cannon, Jaya Trivedi, Richard Barohn, Brian Crum, Hiroshi Mitsumoto, Alan Pestronk, Giovanni Meola, Robin Conwit, Michael G Hanna, Robert C Griggs
OBJECTIVE: To determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis. METHODS: Two multicenter randomized, double-blind, placebo-controlled trials lasted 9 weeks (Class I evidence), followed by a 1-year extension phase in which all participants received DCP. Forty-four HOP and 21 HYP participants participated. The primary outcome variable was the average number of attacks per week over the final 8 weeks of the double-blind phase...
April 12, 2016: Neurology
Shiemaa Khogali, Brooke Lucas, Tarek Ammar, Danica Dejong, Michael Barbalinardo, Lawrence J Hayward, Jean-Marc Renaud
The mechanisms responsible for the onset and progressive worsening of episodic muscle stiffness and weakness in hyperkalemic periodic paralysis (HyperKPP) are not fully understood. Using a knock-in HyperKPP mouse model harboring the M1592V NaV1.4 channel mutant, we interrogated changes in physiological defects during the first year, including tetrodotoxin-sensitive Na(+) influx, hindlimb electromyographic (EMG) activity and immobility, muscle weakness induced by elevated [K(+)]e, myofiber-type composition, and myofiber damage...
December 2015: Physiological Reports
Tarek Ammar, Wei Lin, Amanda Higgins, Lawrence J Hayward, Jean-Marc Renaud
The diaphragm muscle of hyperkalemic periodic paralysis (HyperKPP) patients and of the M1592V HyperKPP mouse model rarely suffers from the myotonic and paralytic symptoms that occur in limb muscles. Enigmatically, HyperKPP diaphragm expresses the mutant NaV1.4 channel and, more importantly, has an abnormally high Na(+) influx similar to that in extensor digitorum longus (EDL) and soleus, two hindlimb muscles suffering from the robust HyperKPP abnormalities. The objective was to uncover the physiological mechanisms that render HyperKPP diaphragm asymptomatic...
December 2015: Journal of General Physiology
Ami Mankodi, Christopher Grunseich, Martin Skov, Lisa Cook, Georg Aue, Enkhtsetseg Purev, Dara Bakar, Tanya Lehky, Karin Jurkat-Rott, Thomas H Pedersen, Richard W Childs
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation. A further shift in the Nav1.4 channel activation in the hyperpolarizing direction as expected with low divalent cations resulted in myotonia that progressed to membrane inexcitability...
November 2015: Neuromuscular Disorders: NMD
Young Han Lee, Hyung Soo Lee, Hyo Eun Lee, Seok Hahn, Tai Seung Nam, Ha Young Shin, Young Chul Choi, Seung Min Kim
BACKGROUND AND PURPOSE: Hyperkalemic periodic paralysis (hyperKPP) is a muscle sodium-ion channelopathy characterized by recurrent paralytic attacks. A proportion of affected individuals develop fixed or chronic progressive weakness that results in significant disability. However, little is known about the pathology of hyperKPP-induced fixed weakness, including the pattern of muscle involvement. The aim of this study was to characterize the patterns of muscle involvement in hyperKPP by whole-body magnetic resonance imaging (MRI)...
October 2015: Journal of Clinical Neurology
M P Atanasova, Sv Toshev, M Sokolov
We report a case of a successfully conducted anesthesia, without complications of a patient with hyperkalemic periodic paralysis who underwent elective laparoscopic cholecystectomy for chronic calculous cholecystitis. The perioperative considerations, the characteristics of anesthesia, and the factors that can lead to complications in this rare genetic disorder are discussed.
2014: Khirurgiia
Xiao-li Liu, Xiao-jun Huang, Xing-hua Luan, Hai-yan Zhou, Tian Wang, Jing-yi Wang, Sheng-di Chen, Hui-dong Tang, Li Cao
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CACNA1S. As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively...
2015: Channels
Louis Ptáček, Sarah Jackson
No abstract text is available yet for this article.
April 2015: Journal of Clinical Investigation
Y H Choi, M C T Penedo, P Daftari, I C Velez, K Hinrichs
Preimplantation genetic diagnosis has great potential in the horse, but information on evaluation of equine embryo biopsy samples is limited. Blastocysts were biopsied using a Piezo drill and methods for whole-genome amplification (WGA) investigated. Results for 33 genetic loci were then compared between biopsy samples from in vitro-produced (IVP) and in vivo-recovered (VIV) blastocysts. Under the experimental conditions described, WGA using the Qiagen Repli-g Midi kit was more accurate than that using the Illustra Genomiphi V2 kit (98...
March 17, 2015: Reproduction, Fertility, and Development
W David Arnold, Daniel H Feldman, Sandra Ramirez, Liuyuan He, Darine Kassar, Adam Quick, Tara L Klassen, Marian Lara, Joanna Nguyen, John T Kissel, Christoph Lossin, Ricardo A Maselli
OBJECTIVE: To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic syndrome (CMS) associated with longstanding muscle fatigability, and to investigate the underlying pathophysiology. METHODS: We used whole-cell voltage clamping to compare the biophysical parameters of wild-type and Arg1457His-mutant Nav 1.4. RESULTS: Clinical and neurophysiological evaluation revealed features consistent with CMS...
May 2015: Annals of Neurology
Rahul R Singh, S Veronica Tan, Michael G Hanna, Stephanie A Robb, Antonia Clarke, Heinz Jungbluth
Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide spectrum of neuromuscular disorders with variable onset, ranging from a rare form of congenital myasthenic syndrome to both hypokalemic and hyperkalemic forms of periodic paralysis and paramyotonia congenita. Here we report on 3 unrelated patients without family history presenting with recurrent, life-threatening episodes of laryngospasm from the first months of life...
November 2014: Pediatrics
Kensuke Shiga, Ikuko Mizuta, Yu-ichi Noto, Masanori Nakagawa, Ryogen Sasaki, Masanaga Yamawaki
A 73-year-old man with recurrent periodic paralytic episodes lasting for two weeks each admitted to our hospital because of the leg weakness and the elevated value of serum creatine kinase. On admission, weakness in the proximal legs and mild eye lid myotonia were noted. Needle electromyography revealed abundant myotonic discharges. The prolonged exercise test showed a continuous reduction of compound muscle action potentials in the abductor digiti minimi muscle. Direct sequencing of SCN4A in the proband showed a G-to-A alteration at position 4774 that results in a change of 1592(nd) methionine to valine (M1592V)...
2014: Rinshō Shinkeigaku, Clinical Neurology
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