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J Electrocardiol 2021 Jun 12;67:107-109. Epub 2021 Jun 12.

Department of Cardiology, Central Defense Hospital Gómez Ulla, Madrid, Spain.

Thyrotoxic periodic paralysis (TPP) is a rare but potentially life-threatening entity, which is characterized by sudden onset of muscle weakness and can in exceptional cases be associated with more severe symptoms, such as severe hypokalemia. We present the rare case of a young patient presenting with monomorphic ventricular tachycardia secondary to hypokalemia due to TPP. This case report highlights the importance of recognition of TPP as a rare cause of VT. Read More

Muscle Nerve 2021 Jun 15. Epub 2021 Jun 15.

Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.

Introduction: Long-term efficacy and safety of dichlorphenamide (DCP) were characterized in patients with primary periodic paralysis (PPP).

Methods: Patients with PPP in a double-blind, placebo-controlled study were randomly assigned to receive DCP 50 mg twice daily or placebo for 9 weeks, followed by a 52-week open-label DCP treatment phase (DCP/DCP and placebo/DCP populations). Efficacy (attack rate, severity-weighted attack rate) and safety were assessed in patients completing the study (61 weeks). Read More

J Family Med Prim Care 2021 Apr 29;10(4):1789-1791. Epub 2021 Apr 29.

Department of Pulmonary Medicine, Rajagiri Hospital, Chunangamvely, Aluva, Kochi, Kerala, India.

Novel corona virus pandemic in 2020 has created havoc across the world. Since its entry into Indian subcontinent in February 2020, it has become the second most affected country in the world. In this context we wish to share the case of a young man who presented with periodic paralysis was eventually diagnosed to have COVID-19 infection. Read More

Acta Neuropathol Commun 2021 Jun 13;9(1):109. Epub 2021 Jun 13.

Copenhagen Neuromuscular Center, section 8077, Copenhagen University Hospital: Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Hypokalemic periodic paralysis is an autosomal dominant, rare disorder caused by variants in the genes for voltage-gated calcium channel Ca1.1 (CACNA1S) and Na1.4 (SCN4A). Read More

J Neurol Neurosurg Psychiatry 2021 Jun 10. Epub 2021 Jun 10.

Department for Health Evidence, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Neuromuscul Disord 2021 Apr 24. Epub 2021 Apr 24.

Department of Neurology, Ohio State University Wexner Medical Center, 395W 12th Ave, 7th Floor, Columbus, OH 43210, United States. Electronic address:

Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features. Treatment of Andersen-Tawil syndrome is primarily focused on management of cardiac arrhythmias and preventive management of paralytic attacks. Read More

Clin Neurophysiol 2021 Jul 30;132(7):1496-1498. Epub 2021 Apr 30.

Department of Neurology, Tokushima University Hospital, Tokushima, Japan.

Cureus 2021 Apr 19;13(4):e14553. Epub 2021 Apr 19.

Anesthesiology, Aga Khan University Hospital, Karachi, PAK.

Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare but life-threatening complication of hyperthyroidism seen predominantly in males. It is generally characterized by hypokalemia and skeletal muscle paralysis requiring intensive care admission. Hypokalemia occurs due to the massive intracellular shift of potassium because of the hyperactivity of the sodium-potassium adenosine triphosphates pump (Na K ATPase). Read More

N Engl J Med 2021 May 8;384(19):e71. Epub 2021 May 8.

University of Toronto, Toronto, ON, Canada

Ear Nose Throat J 2021 May 11:1455613211016706. Epub 2021 May 11.

Department of Otorhinolaryngology, 89681The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, People's Republic of China.

Facial nerve schwannomas are rare, benign, slow-growing tumors that can occur in any segment of the facial nerve, although 71% of cases are intratemporal. Surgical resection can lead to facial nerve injury. Facial function recovery after reanimation is usually not better than House-Brackmann (HB) grade III. Read More

Neuromuscul Disord 2021 Apr 15. Epub 2021 Apr 15.

Department of Clinical Electrophysiology, Institute of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China. Electronic address:

Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin. We present detailed phenotype and genotype data from a cohort of 40 cases with SCN4A gene mutations seen in neuromuscular diagnostic service in Huashan hospital, Fudan University. Read More

Air Med J 2021 May-Jun;40(3):185-187. Epub 2021 Jan 19.

Airlift Northwest, Seattle, WA; Harborview Medical Center, University of Washington, Department of Emergency Medicine, Seattle, WA.

Elife 2021 04 27;10. Epub 2021 Apr 27.

Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, United States.

In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from muscle of both genetic and pharmacologic mouse models of Becker disease to identify the mechanism underlying transient weakness. Our recordings reveal transient depolarizations (plateau potentials) of the membrane potential to -25 to -35 mV in the genetic and pharmacologic models of Becker disease. Read More

Arch Acad Emerg Med 2021 17;9(1):e19. Epub 2021 Feb 17.

Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

Thyrotoxic periodic paralysis is a rare endocrine emergency that manifests as acute onset muscle weakness and hypokalaemia secondary to thyrotoxicosis. It mainly occurs due to rapid and dramatic intracellular shift of potassium resulting in hypokalaemia and acute flaccid paralysis. This condition predominantly affects males of Asian descent, and presentation can range from mild generalized weakness to complete quadriplegia, as seen in our case. Read More

Eur J Case Rep Intern Med 2021 4;8(3):002362. Epub 2021 Mar 4.

Department of Internal Medicine, Spaarne Gasthuis, Haarlem, The Netherlands.

We describe a 29-year-old male bodybuilder with recurrent attacks of myalgia and muscle weakness associated with hypokalaemia and thyrotoxicosis due to abuse of liothyronine. The attacks quickly resolved after potassium supplementation and liothyronine cessation. We concluded that the patient had thyrotoxic hypokalaemic periodic paralysis (TPP). Read More

J Gen Physiol 2021 May;153(5)

Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC, Canada.

Cannabidiol (CBD) is the primary nonpsychotropic phytocannabinoid found in Cannabis sativa, which has been proposed to be therapeutic against many conditions, including muscle spasms. Among its putative targets are voltage-gated sodium channels (Navs), which have been implicated in many conditions. We investigated the effects of CBD on Nav1. Read More

J Thyroid Res 2021 16;2021:7814159. Epub 2021 Mar 16.

[This retracts the article DOI: 10.1155/2014/649502.]. Read More

Br J Hosp Med (Lond) 2021 Mar 13;82(3):1-3. Epub 2021 Mar 13.

Department of Diabetes and Endocrinology, Bassetlaw Hospital, Doncaster and Bassetlaw, Teaching Hospitals NHS Foundation Trust, Worksop, UK.

A A Pract 2021 Mar 30;15(4):e01431. Epub 2021 Mar 30.

Novant Health Forsyth Medical Center, Winston Salem, North Carolina.

We report the management of a parturient with undiagnosed hypokalemic periodic paralysis (HOKPP) who underwent epidural analgesia for labor, complicated by an unintentional dural puncture, and the eventual use of epidural anesthesia for cesarean delivery. Following discharge, she represented with lower extremity paresis. After being evaluated for a compressive neuraxial lesion, she made a full recovery following potassium repletion. Read More

Physiol Rev 2021 Mar 26. Epub 2021 Mar 26.

Pharmacology, University of Washington, United States.

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other electrically excitable cells. Mutations in them cause a wide range of diseases. These channelopathy mutations affect every aspect of sodium channel function, including voltage sensing, voltage-dependent activation, ion conductance, fast and slow inactivation, and both biosynthesis and assembly. Read More

Muscle Nerve 2021 Jun 5;63(6):897-901. Epub 2021 Apr 5.

Department of Neurology, University of Florida, Gainesville, Florida, USA.

Introduction: Periodic paralysis (PP) is thought to be limited to episodes of muscle weakness, but there are reports of fibromyalgia-like pain in PP. We aimed to evaluate pain and comorbid sleep, fatigue, and mood disorders in PP patients.

Methods: We administered a cross-sectional survey to PP patients at the 2019 Periodic Paralysis Conference. Read More

Infect Genet Evol 2021 Jul 13;91:104809. Epub 2021 Mar 13.

California Animal Health and Food Safety Laboratory, University of California, West Health Sciences Drive, Davis, CA 95616, USA. Electronic address:

Eurasian collared doves (Streptopelia decaocto) were introduced into Florida in the 1980s and have since established populations throughout the continental United States. Pigeon paramyxovirus-1 (PPMV-1), a species-adapted genotype VI Avian orthoavulavirus 1, has caused periodic outbreaks among collared doves in the U.S. Read More

Zhonghua Nei Ke Za Zhi 2021 Mar;60(3):253-256

Department of Endocrinology, Affiliated Hainan Hospital, Hainan Medical University, Haikou 570311, China.

Neurol Sci 2021 Mar 4. Epub 2021 Mar 4.

Department of Neurology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310000, China.

The pathogenesis of primary paroxysmal kinesigenic dyskinesia (PKD) remains unclear, and channelopathy is a possibility. In a pilot study, we found that PKD patients had abnormal exercise test (ET) results. To investigate the ET performances in patients affected by PKD, and the role of the channelopathies in the pathogenesis of PKD, we compared the ET results of PKD patients, control subjects, and hypokalemic periodic paralysis (HoPP) patients, and we analyzed ET changes in 32 PKD patients before and after treatment. Read More

Praxis (Bern 1994) 2021 ;110(3):160-163

City Hospital Waid, Zurich, Switzerland.

This case of ascending paralysis, following an episode of diarrhea, was initially misinterpreted as Guillain-Barré syndrome. The prominent hypokalemia led to the search for other differential diagnoses, initially interpreted as a rare case of periodic hypokalemic paralysis, which usually occurs in Asians after intake of large amounts of starch foods, such as Spaghetti, or rest after heavy exercise. In this case, the reason for the hypokalemia with associated paralysis was caused by a hyperhyreosis factitia through denied intake of T3. Read More

J Neuromuscul Dis 2021 Feb 24. Epub 2021 Feb 24.

Frambu Resource Centre for Rare Disorders (Frambu), Siggerud, Norway.

Background: Primary periodic paralysis (PPP) are rare inherited neuromuscular disorders including Hypokalemic periodic paralysis (HypoPP), Hyperkalemic periodic paralysis (HyperPP) and Andersen-Tawil syndrome (ATS) characterised by attacks of weakness or paralysis of skeletal muscles. Limited effective pharmacological treatments are available, and avoidance of lifestyle related triggers seems important.

Objective: Our aim was to search and assess the scientific literature for information on trigger factors related to nutrition and physical activity in PPP. Read More

J Am Chem Soc 2021 Mar 24;143(11):4311-4318. Epub 2021 Feb 24.

School of Chemistry and Chemical Engineering, and Institute of Molecular Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200240, People's Republic of China.

A deficiency of Ca fluxes arising from dysfunctional voltage-gated calcium channels has been associated with a list of calcium channelopathies such as epilepsy, hypokalemic periodic paralysis, episodic ataxia, etc. Apart from analyzing the pathogenic channel mutations, understanding how the channel regulates the ion conduction would be instructive to the treatment as well. In the present work, in relating the free energetics of Ca transport to the calcium channel, we demonstrate the importance of bridging Ca hydration waters, which form hydrogen bonds with channel -COO and -C═O groups and enable a long-distance effect on the Ca permeation. Read More

Ann Indian Acad Neurol 2020 Sep-Oct;23(5):738-739. Epub 2020 Oct 7.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

BMC Anesthesiol 2021 02 18;21(1):57. Epub 2021 Feb 18.

National Healthcare Group (NHG) Anaesthesiology Residency, 11 Jalan Tan Tock Seng, 308433, Singapore, Singapore.

Background: Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles.

Case Presentation: We report a full term obstetric patient with both paramyotonia congenita and terminal filum lipoma who presents for induction of labour followed by an emergency caesarean section performed under epidural anesthesia. Read More

Neuromuscul Disord 2021 04 14;31(4):336-347. Epub 2020 Dec 14.

Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres. Read More