677 results match your criteria Myokymia


Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous mutation with normal serum magnesium levels.

Acta Myol 2020 Mar 1;39(1):36-39. Epub 2020 Mar 1.

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.

Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the gene encoding for Kv1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.36185/2532-1900-007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315896PMC

Facial Myokymia Due to a Pontine Inflammatory Demyelinating Disorder Associated with Mixed Connective Tissue Disorder [MCTD].

Ann Indian Acad Neurol 2020 May-Jun;23(3):355. Epub 2020 May 9.

Department of Neurology, Aster Medcity, Kothad, Kochi, Kerala, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/aian.AIAN_590_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313610PMC

Swallow-Induced Eyelid Myokymia: A Novel Synkinesis Syndrome.

Neuroophthalmology 2020 Apr 1;44(2):108-110. Epub 2019 Apr 1.

Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Herein, we describe a novel manifestation of facial nerve synkinesis, swallow-induced eyelid myokymia, and hypothesise that this phenomenon is due to synkinetic facial nerve innervations of the stylohyoid-posterior digastric complex of suprahyoid muscles and orbicularis oculi muscle. In our patient's case, onabotulinum toxin A treatment provided good therapeutic response. Swallow-induced eyelid myokymia is a unique and previously unreported variety of facial nerve synkinesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01658107.2019.1587637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202424PMC

Successful Treatment of Superior Oblique Myokymia With Cannabidiol Oil.

J Neuroophthalmol 2020 Apr 30. Epub 2020 Apr 30.

Faculty of Medicine and Dentistry (JM), University of Alberta, Edmonton, Canada; Department of Dentistry (SL), Hospital for Sick Children, Toronto, Canada; Department of Pediatric Dentistry (SL), Faculty of Dentistry, University of Toronto, Toronto, Canada; Department of Ophthalmology and Vision Sciences (JAM), University of Toronto, Toronto, Canada; Division of Neurology (JAM), Department of Medicine, University of Toronto, Toronto, Canada; and Neuro-Ophthalmology Unit (JAM), Kensington Vision and Research Centre, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WNO.0000000000000977DOI Listing

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

Int J Mol Sci 2020 Apr 22;21(8). Epub 2020 Apr 22.

Department of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.

Kv1.1 belongs to the subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the central and peripheral nervous systems. is the only gene that has been associated with episodic ataxia type 1 (EA1), an autosomal dominant disorder characterized by ataxia and myokymia and for which different and variable phenotypes have now been reported. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21082935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7215777PMC

Multiphasic acute disseminated encephalomyelitis and differential with early onset multiple sclerosis.

Intractable Rare Dis Res 2020 Feb;9(1):61-63

Neurophysiology Department, Clínica das Américas, Curitiba, Brasil.

Multiple sclerosis is considered the most frequent demyelinating disorder of the Central Nervous System (CNS) among young adults, yet is very rare before 10 years old. Acute disseminated encephalomyelitis is a monophasic, polysymptomatic disorder that involves the CNS white matter with demyelinating lesions, which usually occurs after systemic viral infections. These two demyelinating diseases can present initially as an acute focal neurological syndrome and they can be difficult to distinguish. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5582/irdr.2020.01009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062603PMC
February 2020

Will Tonic Water Stop My Eyelid Twitching?

Clin Ophthalmol 2020 4;14:689-691. Epub 2020 Mar 4.

HDR Research Center, Hoopes Vision, Draper, UT, USA.

Eyelid myokymia, commonly referred to as "eyelid twitching", is a common, benign condition that resolves in most individuals within hours to days; however, chronic cases can persist for several weeks to months, prompting the search for home remedies that may reduce the frequency or duration of symptoms. In this article, we discuss the proposed pathophysiologic mechanism and safety concerns surrounding tonic water as a treatment for eyelid myokymia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/OPTH.S235895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061523PMC

Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

Pract Neurol 2020 May 17;20(3):253-255. Epub 2020 Mar 17.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: and Patients with gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/practneurol-2019-002462DOI Listing

Limb Myokymia in Guillain-Barré Syndrome.

Neurol India 2020 Jan-Feb;68(1):230-233

Department of Neurology, Government Mohan Kumaramangalam Medical College Hospital, Salem, Tamil Nadu, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.279682DOI Listing

Radiation induced subclinical brachial myokymia captured on muscle ultrasound.

Clin Neurophysiol 2020 May 13;131(5):1166-1167. Epub 2020 Feb 13.

Department of Orthopaedics, Bay Of Plenty District Health Board, Tauranga Hospital, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinph.2020.02.001DOI Listing

Painful myokymia after surgery in a patient with Isaacs' syndrome: a case report.

JA Clin Rep 2020 Feb 15;6(1):14. Epub 2020 Feb 15.

Department of Anesthesiology and Pain Medicine, Hyogo College of Medicine, 1-1, Mukogawa-cho, Nishinomiya, Hyogo, Japan.

Background: Isaacs' syndrome is a peripheral nerve hyperexcitability syndrome and rare acquired channel disease. The symptoms (myokymia, neuromyotonia, and muscle spasm) emerge even during sleep. This report describes the anesthetic management, especially neuromuscular blocking drugs and postoperative pain, in a case of Isaacs' syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40981-020-00321-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7024069PMC
February 2020

More than hemifacial spasm? A case of unilateral facial spasms with systematic review of red flags.

J Neurol Sci 2019 Dec 13;407:116532. Epub 2019 Oct 13.

Chulalongkorn Centre of Excellence for Parkinson's Disease & Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand. Electronic address:

Unilateral facial spasms (UFS) are frequently caused by hemifacial spasm (HFS), a disorder that usually results from vascular loop compression at the root exit zone of the facial nerve. However, UFS can also be a manifestation of other conditions, including brainstem tumours or demyelination, post-Bell's synkinesis, lesions of the facial nerve in the Faloppio canal and the parotid gland, dystonia, epilepsy, psychogenic conditions, tics and hemimasticatory spasm. In this report, we present a case of UFS, not due to HFS, highlighting clinical red flags for an alternative diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2019.116532DOI Listing
December 2019

Insomnia and Dysautonomia with Contactin-Associated Protein 2 and Leucine-Rich Glioma Inactivated Protein 1 Antibodies: A "Forme Fruste" of Morvan Syndrome?

Case Rep Neurol 2019 Jan-Apr;11(1):80-86. Epub 2019 Feb 28.

Department of Neuroscience, Aziz Sancar Institute of Experimental Medical Research, Istanbul University, Istanbul, Turkey.

Morvan syndrome (MoS) is typically characterized by neuromyotonia, sleep dysfunction, dysautonomia, and cognitive dysfunction. However, MoS patients with mild peripheral nerve hyperexcitability (PNH) or encephalopathy features have been described. A 46-year-old woman presented with a 2-month history of constipation, hyperhidrosis, and insomnia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000497817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739709PMC
February 2019
10 Reads

A case report of Morvan syndrome.

Ideggyogy Sz 2019 Jul;72(7-8):285-288

Sakarya University, Departmant of Neurology, Sakarya, Turkey.

Morvan syndrome is a rare disease characterized by peripheral nerve hyperexcitability, encephalopathy, dys-autonomia and significant insomnia. The patient, who was included in the present study, was followed-up at our clinics for confusion, myokymia, hyperhidrosis, epileptic seizures, tachycardia, agitation, hypokalemia, and hyponatremia. The cranial MRI of the patient demonstrated hyperintensities at the T2 and FLAIR sections of the medial temporal lobe and insular lobes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18071/isz.72.0285DOI Listing
July 2019
2 Reads

Superior oblique myokymia, a review.

Curr Opin Ophthalmol 2019 Nov;30(6):472-475

Department of Ophthalmology, Division of Neuro-Ophthalmology, Weill Cornell Medical College, New York City, New York, USA.

Purpose Or Review: Superior oblique myokymia is a rare, monocular condition that typically presents in healthy adults. In this article, we review the proposed pathophysiology, describe the typical clinical presentation, and discuss the recommended work up and various treatment options.

Recent Findings: Treatment for this condition ranges from observation and reassurance to various topical and systemic medications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/ICU.0000000000000619DOI Listing
November 2019

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.

Cerebellum Ataxias 2019 15;6. Epub 2019 Jul 15.

1Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 ( cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40673-019-0103-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631598PMC
July 2019
8 Reads

Waves in Extremities: A Rare Report of Isolated Isaacs' Syndrome.

Cureus 2019 May 17;11(5):e4687. Epub 2019 May 17.

Internal Medicine, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, PAK.

Isaacs' syndrome is a rare neuromuscular hyperexcitable syndrome with myriad manifestations ranging from motor and sensory to autonomic presentations, leading to diagnostic challenges. Among the commonest forms, a tetrad of stiffness, myokymia (muscle twitching at rest), weakness, and psuedomyotonia (delayed muscle relaxation) is almost always present. Herein, we report a case of a 16-year-old male who presented to the neurology consult service with intense wave-like pain in the lower extremities with desquamating rash and cold-induced allodynia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.4687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639064PMC
May 2019
8 Reads

Peripheral nerve hyperexcitability.

Authors:
Bashar Katirji

Handb Clin Neurol 2019 ;161:281-290

Neuromuscular Center and EMG Laboratory, Neurological Institute, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, United States. Electronic address:

Neuromyotonic and myokymic discharges are abnormal electrical muscular discharges caused by ectopic discharges from motor axons and represent the hallmarks of peripheral nerve hyperexcitability. Neuromyotonic discharges are specific for peripheral nerve hyperexcitability syndromes, whereas myokymic discharges may occur either focally or in a more generalized fashion in many other peripheral nerve disorders. Isaacs syndrome and Morvan syndrome are rare acquired peripheral nerve hyperexcitability disorders that share common clinical features and are often associated with elevated voltage-gated potassium channel-complex antibodies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-64142-7.00054-0DOI Listing
January 2020
20 Reads

Superior Oblique Myokymia: A Case Report of Surgical Treatment, Review of the Literature, and Consideration of Surgical Approach.

World Neurosurg 2019 Nov 9;131:197-199. Epub 2019 Jul 9.

Kikuna Yuda Ophthalmology Clinic, Yokohama, Kanagawa, Japan.

Background: Superior oblique myokymia (SOM) is a rare disorder characterized by episodic microtremor of the eyeball. in patients with SOM, intermittent contraction of the superior oblique muscle causes irregular and rotatory eye movement, causing oscillopsia and diplopia. Microvascular decompression (MVD) of the trochlear nerve is potentially a definitive treatment method for SOM; however, owing to its rarity, this disorder is not well-known to neurosurgeons, and thus the optimal surgical approach has not yet been determined. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2019.07.024DOI Listing
November 2019
1 Read

Teaching Video NeuroImages: Tongue myokymia in hypoglossal neuropathy.

Neurology 2019 07;93(2):e214

From the Department of Rehabilitation Medicine (T.C.W.), Changi General Hospital, Singapore; and the Department of Neurology (R.M., N.S.), St Vincent's Hospital, Darlinghurst, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007756DOI Listing

[Clinical Characteristics of Autoimmune Disease with Dual Seropositive Antibodies of Leucine-rich Glioma Inactivated 1 and Contactin-associated Protein 2].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2019 Jun;41(3):344-350

Department of Neurology,PUMC Hospital,CAMS and PUMC,Beijing 100005,China.

Objective To explore the clinical characteristics of autoimmune disease with dual seropositive antibodies of leucine-rich glioma inactivated 1(LGI1)and contactin-associated protein 2(Caspr2).Methods The clinical data of seven patients with dual seropositive LGI1 and Caspr2 antibodies who were admitted to the Neurology Department of Peking Union Medical College Hospital from July 2014 to December 2017 were retrospectively analyzed.Results Central,peripheral and autonomic nervous systems were all involved in the seven cases;100%(7/7)presented with insomnia,myokymia,neuropahic pain and hyperhydrosis;71%(5/7)showed memory decline or psychiatric and behavioral symptoms;57%(4/7)had urinary hesitation or constipation;and 43%(3/7)had seizure. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3881/j.issn.1000-503X.11177DOI Listing
June 2019
23 Reads

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.

Eur J Hum Genet 2019 10 3;27(10):1561-1568. Epub 2019 Jun 3.

Department of Nutrition, Genetics and Ethology, Ghent University, Merelbeke, Belgium.

Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exome sequencing identified the SLC12A6 NC_006612. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0432-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777613PMC
October 2019
9 Reads

Focal myokymia in carpal tunnel syndrome.

Neurol Clin Pract 2019 Apr;9(2):e11-e12

Department of Internal Medicine (C.Y.C.), Hospital Sultanah Bahiyah; and Department of Internal Medicine (O.B.H., N.B.M.S.), Neurology Unit, Hospital Sultanah Bahiyah, Alor Setar, Kedah, Malaysia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CPJ.0000000000000581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461429PMC
April 2019
8 Reads

Herculean Boy With Facial Myokymia.

Pediatr Neurol 2019 07 20;96:79-80. Epub 2019 Feb 20.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.011DOI Listing
July 2019
22 Reads
1.504 Impact Factor

Therapy of episodic ataxias: case report and review of the literature.

Drugs Context 2019 11;8:212576. Epub 2019 Mar 11.

Unit of Neurology, San Luca Hospital, Lucca, Italy.

Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7573/dic.212576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415777PMC
March 2019
8 Reads

Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies.

Dev Med Child Neurol 2019 11 6;61(11):1344-1347. Epub 2019 Feb 6.

Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.

Acquired neuromyotonia is a form of peripheral nerve hyperexcitability. In adults, pathogenic antibodies that target the extracellular domains of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) have been reported. We describe three paediatric patients with acquired neuromyotonia and CASPR2 and LGI1 serum antibodies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14179DOI Listing
November 2019
11 Reads

Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology?

Funct Neurol 2018 Oct/Dec;33(4):194-199

Some patients with multiple sclerosis (MS) complain of symptoms, such as myokymia, myotonia, spasms, and stiffness, which have been demonstrated to be due to a concurrent non-dystrophic myotonia, i.e. myotonia congenita or paramyotonia congenita. Read More

View Article

Download full-text PDF

Source
April 2019
28 Reads

Intermittent Myokymia as a Pointer to Hemangioblastoma of the Cervical Spine: A Case Report.

Case Rep Neurol 2018 Sep-Dec;10(3):338-341. Epub 2018 Dec 4.

REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.

Hemangioblastomas represent 3% of all central nervous system (CNS) tumors. The majority of CNS hemangioblastomas are infratentorial, with the cerebellum being the most frequent location, while 13% are found in the brainstem. Symptoms of brainstem hemangioblastomas can be very subtle and might therefore be overlooked or misinterpreted. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000494878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323388PMC
December 2018
9 Reads

Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review.

Neuropediatrics 2019 04 21;50(2):116-121. Epub 2018 Dec 21.

Research Unit UR12 SP24, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.

Myasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Read More

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676514
Publisher Site
http://dx.doi.org/10.1055/s-0038-1676514DOI Listing
April 2019
28 Reads
1.104 Impact Factor

Morvan's syndrome: An underdiagnosed entity. A short review.

Neurol India 2018 Nov-Dec;66(6):1805-1807

Department of Nuclear Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.246272DOI Listing
September 2019
1 Read

Neuromyotonia in a horse.

J Vet Intern Med 2019 Jan 3;33(1):287-291. Epub 2018 Dec 3.

Department of Veterinary Clinical Sciences, School of Veterinary Medicine and Animal Sciences, Sao Paulo State University (Unesp), Botucatu, Sao Paulo, Brazil.

This article describes the clinical and electromyographic findings of neuromyotonia in a 19-month-old male crossbred Quarter Horse that presented with stiffness and muscle asymmetry in the hind limbs as well as sacrococcygeal, paravertebral, and gluteal myokymia. An electromyographic study showed spontaneous continuous muscle fiber activity with high-frequency discharges, fibrillations, positive sharp waves, fasciculation potentials, and complex repetitive discharges. Histological examination of the gluteal muscle showed a mixed neurogenic and myopathic pattern. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jvim.15353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335518PMC
January 2019
11 Reads

Resection of a Petroclival Meningioma via the Endoscope-Assisted Retrosigmoid Approach: 2-D Operative Video.

J Neurol Surg B Skull Base 2018 Dec 1;79(Suppl 5):S395-S396. Epub 2018 Oct 1.

Department of Neurological Surgery, Eberhard-Karls University, University Hospital Tübingen, Tübingen, Germany.

We present a case of a petroclival meningioma that was resected through an endoscope-assisted retrosigmoid approach via corridors above and below the facial-vestibulocochlear nerve complex. The patient is a 61-year-old female with complaints of left-sided hypesthesia and neuralgia of the infraorbital and zygomatic region, intermittent periorbital myokymia, and a slight facial palsy (HB II). This 2D video demonstrates the operative technique, anatomical and surgical nuances of the skull base approach and microdissection of the tumor from the critical neurovascular structures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1669984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240343PMC
December 2018
9 Reads

Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip.

Neurology 2018 10;91(17):e1659

From the Department of Neurology, University Hospital Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006388DOI Listing
October 2018
38 Reads

Recurrent Superior Oblique Myokymia Treated by Distal Tendon Extirpation.

J Neuroophthalmol 2019 09;39(3):345-347

Beckman Vision Center, Program in Neuroscience, University of California, San Francisco, San Francisco, California.

Background: We describe successful surgical treatment of superior oblique myokymia, which had recurred after superior oblique tenectomy.

Methods: Single case report.

Results: The distal stump of the superior oblique tendon was extirpated by stripping it from the globe. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WNO.0000000000000718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944202PMC
September 2019
4 Reads

Michel Jouvet as a clinical neurophysiologist and neurologist.

Authors:
Hélène Bastuji

Sleep Med 2018 09 2;49:73-77. Epub 2018 Aug 2.

Central Integration of Pain (NeuroPain) Lab - Lyon Neuroscience Research Center; INSERM U1028; CNRS, UMR5292; Université Claude Bernard, Bron, France; Service de Neurologie Fonctionnelle et d'Épileptologie, Hôpital Neurologique, Hospices Civils de Lyon, France; Service de Médecine du Sommeil et des Maladies Respiratoires, Hôpital Croix-Rousse, Hospices Civils de Lyon, France. Electronic address:

While the world reputation of Michel Jouvet in sleep research is based on his huge work on sleep and paradoxical sleep, especially in cats, a far less-known part of his activity was dedicated to investigate and take care of patients with neurological diseases. Indeed, he was also a physician, specialized in neurophysiology and working at the neurological hospital of Lyon. He was most interested first in patients with disorders of consciousness and secondly in those with sleep/wake disorders, and especially in modafinil for the treatment of patients with narcolepsy and idiopathic hypersomnia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.sleep.2018.07.010DOI Listing
September 2018
1 Read

Identification of a New Mutation Underlying Regressive Episodic Ataxia Type I.

Front Neurol 2018 25;9:587. Epub 2018 Jul 25.

Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.

Episodic ataxia type 1 (EA1), a -like K, is a consequence of genetic anomalies in the gene that lead to dysfunctions in the voltage-gated K channel Kv1. 1. Generally, mutations are inherited in an autosomal dominant manner. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2018.00587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094999PMC
July 2018
39 Reads

Morvan's syndrome-is a pathogen behind the curtain?

Neurol Sci 2018 Nov 9;39(11):1965-1969. Epub 2018 Aug 9.

Department of Geriatric Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

Morvan's syndrome is a rare syndrome of likely autoimmune etiology characterized by peripheral nerve hyperexcitability, dysautonomia, insomnia, and fluctuating delirium with prominent hallucinations. Since its first mention in 1890, less than 100 cases have been described in literature. The largest existing review includes details of 29 cases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-018-3515-yDOI Listing
November 2018
69 Reads

Superior oblique myokymia.

Pract Neurol 2018 Oct 30;18(5):415-416. Epub 2018 Jul 30.

Department of Neurology, Referral Center for Autonomic Nervous System Disorders, University Hospital Center Zagreb, Zagreb, Croatia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/practneurol-2018-001967DOI Listing
October 2018
6 Reads

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Am J Med Genet A 2018 08 28;176(8):1748-1752. Epub 2018 Jul 28.

Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

Derangements in voltage-gated potassium channel function are responsible for a range of paroxysmal neurologic disorders. Pathogenic variants in the KCNA1 gene, which encodes the voltage-gated potassium channel Kv1.1, are responsible for Episodic Ataxia Type 1 (EA1). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38840DOI Listing
August 2018
41 Reads

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.

J Parkinsons Dis 2018 ;8(3):399-403

Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2: c. Read More

View Article

Download full-text PDF

Source
http://www.medra.org/servlet/aliasResolver?alias=iospress&am
Publisher Site
http://dx.doi.org/10.3233/JPD-181360DOI Listing
October 2019
17 Reads

Eyelid Myokymia with Concomitant Cerebral Tumour: A Case Report.

Neuroophthalmology 2018 Jun 9;42(3):150-152. Epub 2017 Aug 9.

Department of Oculoplastic, Orbital and Lacrimal Surgery, Aichi Medical University Hospital, Nagakute, Aichi, Japan.

Eyelid myokymia is a localised movement disorder of the orbicularis oculi muscle with involuntary, fine, continuous, and undulating contractions. Although this entity is thought to be peripheral nerve origin, it rarely occurs with an intracranial lesion. The authors report a case of eyelid myokymia with concomitant cerebral tumour. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01658107.2017.1350195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958955PMC
June 2018
22 Reads

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

Nephron 2018 23;139(4):359-366. Epub 2018 May 23.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492638PMC
September 2019
14 Reads

Mercury Toxicity Following Unauthorized Siddha Medicine Intake - A Mimicker of Acquired Neuromyotonia - Report of 32 Cases.

Ann Indian Acad Neurol 2018 Jan-Mar;21(1):49-56

Department of Neurology, PSGIMSR, Coimbatore, Tamil Nadu, India.

Context: Mercury is used extensively in the preparation of Siddha medicines, after purification. In this study, we present 32 patients of mercury toxicity following unauthorized Siddha medicine intake who mimicked neuromyotonia clinically. We analyzed the clinical features of these patients, the role of autoimmunity in etiopathology, and compared it with acquired neuromyotonia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/aian.AIAN_274_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909146PMC
May 2018
6 Reads

Diagnosis of primary hemifacial spasm.

Neurochirurgie 2018 May 16;64(2):82-86. Epub 2018 Apr 16.

Service de neurochirurgie, fondation ophtalmologique Adolphe-de-Rothschild, 75019 Paris, France.

The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuchi.2017.12.003DOI Listing
May 2018
7 Reads

High prevalence of electrocardiac abnormalities in anti-CASPR2 antibody-associated disease.

J Neurol Neurosurg Psychiatry 2019 01 13;90(1):117-118. Epub 2018 Apr 13.

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2017-317527DOI Listing
January 2019
18 Reads

Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia.

Neurology 2018 02;90(9):e814

From the Department of Neurology, Maastricht University Medical Center, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005028DOI Listing
February 2018
5 Reads

Thymoma-associated myasthenia gravis and LGI1-encephalitis, with nephrotic syndrome post-thymectomy.

J Neuroimmunol 2018 04 1;317:100-102. Epub 2018 Feb 1.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. Electronic address:

Thymoma is associated with a wide spectrum of autoimmune paraneoplastic syndromes, though it is uncommon for multiple paraneoplastic syndromes to be present in a single individual. We report a rare case of an elderly gentleman who was found to have thymoma-associated myasthenia gravis and LGI1-encephalitis with myokymia, who presented with nephrotic syndrome (minimal change glomerulopathy) after thymectomy. The latter two paraneoplastic syndromes had manifested when prednisolone was tapered down to low dose. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jneuroim.2018.01.011DOI Listing
April 2018
13 Reads