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10 rezultatov
[Facial myokymia caused by pontine lesions and central fever in multiple sclerosis--case report].
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
We report on a 35-year old patient with multiple sclerosis (MS) with clinically and electrophysiologically typical facial myokymia, appearing during an acute bout of the disease. Magnetic resonance imaging (MRI) disclosed two new pontine lesions. During a follow-up period of eight months facial
[Limb myokymia with involuntary finger movement caused by peripheral neuropathy due to systemic lupus erythematosus (SLE)--a case report].
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Prijava / prijava
A 24-year-old woman with SLE since the age of 12 developed sensory-motor peripheral neuropathy in 1990. Her sensory neuropathy was symmetrical in all limbs and distally dominant. Electrophysiological study showed marked reduction of motor and sensory conduction velocities. Sural nerve biopsy
Morvan's syndrome and myasthenia gravis related to familial Mediterranean fever gene mutations.
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Prijava / prijava
BACKGROUND
We present the first case of Morvan's syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations.
METHODS
A 40-year-old woman with a 1-year history of bilateral ptosis and limb muscle weakness presented to our hospital. She also had memory
'Continuous muscle fibre activity' in six dogs with episodic myokymia, stiffness and collapse.
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Prijava / prijava
Continuous muscle fibre activity was observed in a crossbred dog, a Yorkshire terrier, a border collie and three Jack Russell terriers. The clinical signs consisted of episodes of generalised myokymia which developed into muscle stiffness and delayed muscle relaxation and generally led to the dogs
Myokymia and neuromyotonia in 37 Jack Russell terriers.
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Prijava / prijava
The clinical and clinicopathological characteristics, treatment and outcome of vermicular muscle contractions (myokymia) and generalized muscle stiffness (neuromyotonia) in 37 Jack Russell terriers were evaluated retrospectively. Thirty dogs were affected by both disorders, whereas seven were
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
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Prijava / prijava
Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in KCNA1, which encodes the voltage-gated potassium channel, Kv1.1. Eleven members of an EA family were evaluated with molecular and functional studies. A novel c.746T>G (p.Phe249Cys) missense mutation of KCNA1
Teaching Video NeuroImages: myokymia and nerve hyperexcitability as components of Morvan syndrome due to malignant thymoma.
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Prijava / prijava
A 50-year-old woman with a history of metastatic malignant thymoma presented with diffuse neuropathic pain involving the extremities and torso prior to chemotherapy and radiation. She also developed episodic diarrhea, diaphoresis, fevers, insomnia, and encephalopathy. Examination revealed rippling
Central pontine myelinolysis.
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Prijava / prijava
A 9 year old boy presented with fever, drowsiness, quadriparesis and facial myokymia. MRI showed demyelination in the pontine region. A diagnosis of central pontine myelinolysis was made. Literature review revealed the rarity of uneventful recovery as has been seen in our case.
Chromosomal localization of 15 ion channel genes.
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Prijava / prijava
Several human Mendelian diseases, including the long-QT syndrome, malignant hyperthermia, and episodic ataxia/myokymia syndrome, have recently been demonstrated to be due to mutations in ion channel genes. Systematic mapping of ion channel genes may therefore reveal candidates for other heritable
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
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Prijava / prijava
Episodic ataxia type 1 (EA1) is an autosomal dominant K(+) channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia. Episodes can be triggered by emotional or physical stress, startle response, sudden postural change or fever. Here
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