Progressive myoclonic epilepsy
<p>A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran</p>
... named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene ...a progressive muscle weakness from ages 3 – 7 years, ...
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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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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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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. ...
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Case Report of Management Problem of Juvenile Myoclonic Epilepsy
... with epilepsy” by Pritchard ...juvenile myoclonic epilepsy (JME) calling the myoclonic jerks ...described progressive myoclonic epilepsy in 1901 but failed to recognise ...
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Drug Refractory Juvenile Myoclonic Epilepsy: Neuropsychological profile and psychiatric symptoms
... In the current investigation the HADS was administered to investigate anxiety and depression. Past studies of JME [26-28] have often chosen to use the Scheduled Clinical Interview for the DSM-IV axis I, but this requires ...
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Child Neurology: Dravet syndromeWhen to suspect the diagnosis
... Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The sei- zures often ...
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Thyroid profile in children on anticonvulsant monotherapy
... in child-friendly formulation. However, while the advent of the new AEDs should be welcomed, it is important to use the older, ‘conventional’ AEDs appropriately and initially, particularly in view of the limited data on ...
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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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Case report of west syndrome: a rare severe epilepsy in infants
... of epilepsy of early childhood was first describe in ...with myoclonic-tonic seizures (spasms) characterized by flexor, extensor or mixed movements with dis- tinct electroencephalogram (EEG) pattern of ...
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Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction.
... the epilepsy clinic of Sina Hospital, and 32 healthy controls in Tehran, Iran were enrolled in the ...Against Epilepsy (ILAE) classification ...of myoclonic jerks with or without generalized tonic- ...
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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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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features
... either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was ...
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SYNGAP1 encephalopathyA distinctive generalized developmental and epileptic encephalopathy
... generalized epilepsy phenotype emerged combin- ing features of 2 well-described syndromes, epilepsy with eyelid myoclonia with absences, reported by Jeavons, 36 and epilepsy with ...
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Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.
... presented epilepsy of the temporal lobe, 3 (20%) presented the Lennox-Gastaut syndrome, 3 (20%) presented the Landau Kleffner syndrome, 2 (13%) presented the Doose syndrome, and 1 (7%) presented the West ...
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Wieländer, Franziska (2018): Clinical and electroencephalographic characterization of juvenile myoclonic epilepsy in Rhodesian Ridgebacks. Dissertation, LMU München: Tierärztliche Fakultät
... of epilepsy genes. Epilepsy is one of the most common chronic neurological diseases in humans and dogs (EKENSTEDT & OBERBAUER, 2013; VOLK, ...idiopathic epilepsy (HÜLSMEYER et ...
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
... the Epilepsy Research Foundation, University of Helsinki Funds, the Doctoral Programme in Biomedicine University of Helsinki, the Arvo and Lea Ylppö Foundation, the Finnish Brain Foundation, the Paolo Foundation, ...
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A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy
... The myoclonic tremor in BAFME patients may be attributed mainly to electrophysi- ological changes of the cerebral cortex, which are caused by pathological changes or functional damage in the cerebellum instead of ...
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Management of refractory neonatal seizures
... pyridoxine-dependent epilepsy, pyridoxal phosphate-dependent epilepsy, folinic acid-responsive seizures, and biotinidase deficiency, see Table 2), mitochondrial encephalomyopathies, transient metabolic ...
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Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
... and epilepsy are not prominent features of SCA, so SCA was less ...and progressive neurologic decline; they may include ataxia, progressive cognitive decline, neuropathy, and ...myoclonus ...
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