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Myoclonic epilepsy

Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

... by childhood or adolescent onset difficult to control multiple type seizures including myoclonous, generalized tonic clonic, absences, psychomotor regression with ataxia, dementia, dysarthria, visual hallucinations, and ...

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Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

... Generalized genetic epilepsies, previously known as primary generalized or idiopathic generalized epilepsies, refer to a group of syndromes with known or presumed genetic origin, with juvenile myoclonic ...

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Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia

Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia

... Analysis of pedigrees (clinico-genealogical analysis) revealed that 50% of patients have family members or close relatives presenting with epileptic seizures [3]; 80% of symptomatic siblings and 6% of asymptomatic ...

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West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

... arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave occurring at 12 years of age and by co-occurrence of a later generalized ...

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Influence of anxiety on wrist tapping parameters and individual perception of one minute in healthy adults and in patients with juvenile myoclonic epilepsy

Influence of anxiety on wrist tapping parameters and individual perception of one minute in healthy adults and in patients with juvenile myoclonic epilepsy

... Abstract: Aim ― To study the influence of anxiety on parameters of wrist tapping in normal conditions and in juvenile myoclonic epilepsy (JME). Material and Methods ― We evaluated 105 people aged 16 to 55 ...

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Human Brain signal Analysis: Juvenile Myoclonic Epilepsy Diagnosis by Electroencephalograph

Human Brain signal Analysis: Juvenile Myoclonic Epilepsy Diagnosis by Electroencephalograph

... Juvenile Myoclonic Epilepsy recognition and its cognitive effect were investigated through Welch Periodogram analysis of EEG ...Juvenile Myoclonic Epilepsy detected in primarily stage where ...

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Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction.

Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction.

... Juvenile Myoclonic Epilepsy (JME) is the most common form of IGE ...of epilepsy. Moreover, most studies on patients with epilepsy have not considered confounding factors such as depression in ...

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Case Report of Management Problem of Juvenile Myoclonic Epilepsy

Case Report of Management Problem of Juvenile Myoclonic Epilepsy

... with epilepsy” by Pritchard ...juvenile myoclonic epilepsy (JME) calling the myoclonic jerks ...progressive myoclonic epilepsy in 1901 but failed to recognise the existence of ...

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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

<p>A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran</p>

... progressive myoclonic epilepsy (PME; OMIM #159950) is a very rare autosomal-recessive (AR) condition, that is not the result of mutation in SMN-1 gene, but is caused by mutation in the N-acylsphingosine ...

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An Autistic Female with Refractory Juvenile Myoclonic Epilepsy and Sequelae of Neonatal Cerebellar Insults, Effectively Treated with Perampanel

An Autistic Female with Refractory Juvenile Myoclonic Epilepsy and Sequelae of Neonatal Cerebellar Insults, Effectively Treated with Perampanel

... juvenile myoclonic epilepsy ...suspected myoclonic atonic seizures (MAS) that were worsened by adding levetiracetam (LEV) but improved by the administration of rafinamide ...induces myoclonic ...

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Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

... Progressive myoclonic epilepsy (PME) is generally manifested with refractory myoclo- nus seizures, cognitive decline and neurologic deterioration, caused by metabolic, genetic and neurodegenerative ...

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A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy

A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy

... adult myoclonic epilepsy (FAME), familial cortical tremor and epilepsy (FCTE), familial cortical myoclonic tremor with epilepsy (FCMTE), and autosomal dominant cortical myoclonus and ...

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Wieländer, Franziska
  

(2018):


	Clinical and electroencephalographic characterization of juvenile myoclonic epilepsy in Rhodesian Ridgebacks.


Dissertation, LMU München: Tierärztliche Fakultät

Wieländer, Franziska (2018): Clinical and electroencephalographic characterization of juvenile myoclonic epilepsy in Rhodesian Ridgebacks. Dissertation, LMU München: Tierärztliche Fakultät

... generalized myoclonic epilepsy in RRs, we combined a genome wide association study (GWAS) and next-generation sequencing analyses using whole-exome (WES) and whole-genome (WGS) ...an epilepsy ...

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Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation

Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation

... fluticasone (3 × 2 H), and bisoprolol (5 mg/day). The patient died at the age of 71 years from gastrointestinal bleeding after implantation of a percutaneous endoscopic gastrostomy. Her history was also positive for ...

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Juvenile myoclonic epilepsy, a common epilepsy syndrome

Juvenile myoclonic epilepsy, a common epilepsy syndrome

... “Juvenile myoclonic epilepsy 25 years after seizure onset: A population-based study” (Neurology 2009; 73:1041–1045), ...of epilepsy do over a long period of ...

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Headache in juvenile myoclonic epilepsy

Headache in juvenile myoclonic epilepsy

... Juvenile myoclonic epilepsy (JME) is a generalized epilepsy syndrome [6] with a prevalence of 4–10% of all patients with epilepsy ...are myoclonic jerks, generalized tonic-clonic ...

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Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy

Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy

... 5 large prospective study of 257 JME patients reported remission in 58% of the 186 patients considered to have classical JME, but a much lower rate of remission of 7% in the subtype which had evolved from an earlier CAE ...

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Drug Refractory Juvenile Myoclonic Epilepsy: Neuropsychological profile and psychiatric symptoms

Drug Refractory Juvenile Myoclonic Epilepsy: Neuropsychological profile and psychiatric symptoms

... People with drug-refractory JME performed least well on tests of mental flexibility and inhibition. People with the poorest naming ability also had high anxiety scores and reported high levels of cognitive problems. ...

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Predictors of Outcome in Juvenile Myoclonic Epilepsy

<p>Predictors of Outcome in Juvenile Myoclonic Epilepsy</p>

... Although the majority of JME patients can be controlled under appropriate treatment, JME has a high risk of relapse after the withdrawal of antiepileptic drugs (AEDS). 5–7 A few studies focused on long-term seizure ...

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Genetics of Lafora progressive myoclonic epilepsy: current perspectives

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

... 3. Jansen AC, Andermann E. Progressive myoclonus epilepsy, Lafora type. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993–2015. 4. Minassian ...

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