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Progressive Myoclonic Epilepsy Type 8



  • The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2.[moh-it.pure.elsevier.com]
  • The authors show that the function of the channel is actually reduced by 80% when the mutant channel is present in a 1:1 ratio with wildtype KCNC1. This is what you need to know.[epilepsygenetics.net]
  • Familial Kuf’s disease presenting as a progressive myoclonic epilepsy. J Neurol. 200;247:447-54. Ben-Menachem E, Kyllerman M, Marklund S. Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies.[rarediseases.org]
  • In this paper we present a case, who presented with treatment-resistant seizures and progressive mental failure and was finally diagnosed as Lafora Body disease. 2.[pubs.sciepub.com]
  • […] classify and to treat. 4 5 6 7 Secondary generalized epilepsies account for approximately 9 percent of all patients with epilepsy seen by specialists. 8 hhe onset of symptoms typically occurs in childhood, several types of generalized seizures are usually present[nejm.org]
  • Moreover his work on establishing the syndromic diagnosis of epilepsies and the appropriate video-EEG methodology for their diagnosis, has been regarded by some as ground breaking and he is recognised as one the leading authorities on epilepsy.[books.google.com]
  • Langdon Chair of Pediatric Epilepsy at Northwestern University School of Medicine and Director, Children's Memorial Epilepsy Center at Children's Memorial Hospital.[books.google.com]
  • Myoclonic Epilepsy 4 with or without Renal Failure, Progressive Myoclonic Epilepsy 6, Progressive Myoclonus Epilepsy, Lafora Type, SCN1A- Related Generalized Epilepsy with Febrile Seizures Plus, SCN1A-Related Intractable Childhood Epilepsy with Generalized[genetests.org]
  • […] syndrome 605802 EPI Epilepsy Panel[lhsc.on.ca]
  • Progressive myoclonic epilepsies. Curr Treat Options Neurol. 2002;4:3-17. Pranzatelli MR, Tate ED. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. Pediatr Neurol. 2001;25:385-89.[rarediseases.org]
  • Author of: Benign childhood partial seizures and related epileptic syndromes London: John Libbey and Co. (1999)) Early-onset benign childhood occipital seizure susceptibility syndrome: a syndrome to recognise. Epilepsia 1999: 40:621-630[books.google.com]
  • The most typical seizures are myoclonic seizures, but they can also have generalized tonic-clonic seizures (convulsions).[epilepsy.com]
  • Other seizure medicines used include Keppra (levetiracetam), Topamax (topiramate), Klonopin (clonazepam), and Zonegran (zonisamide). While Lamictal (lamotrigine)can be used, in rare patients the drug can make seizures worse.[epilepsy.com]
  • Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic disorders. [2] The syndrome includes myoclonic seizures and tonic-clonic seizures together with progressive neurological decline.[en.wikipedia.org]
  • Treatment of partial-onset seizures, the most common type of epilepsy, presents a constant challenge - up to 40% of patients with partial-onset seizures do not achieve seizure control with current anti-epileptic drugs.3 Furthermore, central nervous system[ots.at]
Slurred Speech
  • In good health until 8 months previously, she developed progressive incoordination, slurred speech, weakness, and impaired school performance followed after 2 months by her first generalized tonic-clonic seizure and progressive mental deterioration.[pediatricneurologybriefs.com]
  • Treatment-emergent adverse events affecting 10% of patients in the pivotal studies were dizziness, headache and somnolence.[ots.at]


  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Treatment-emergent adverse events affecting 10% of patients in the pivotal studies were dizziness, headache and somnolence.[ots.at]
  • Therefore new treatment modalities are needed. Experimental treatments of ULD patients with dopamine agonists have relieved myoclonic symptoms.[clinicaltrials.gov]
  • After 6 months treatment with vitamin E, selenium, riboflavin, and zinc, there was some improvement in patient awareness and speech.[neurology.org]
  • Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. Mov Disord. 2006;21:1500-2. Caviness JN. Treatment of Myoclonus. Neurotherapeutics. 2014;11(1):188-200. Caviness JN, Brown P.[bcm.edu]


  • What is the prognosis for patients with Lafora disease? At this time, the prognosis for persons affected by Lafora disease is, unfortunately, poor.[epilepsy.com]
  • Accurate diagnosis is essential to provide a prognosis, optimal therapy, and genetic counseling.[journals.lww.com]
  • Well, I remember my husband and I in the summer of 2007 when we learned about Adela’s diagnostic, and we left the neurologist office with a printing from the Internet that was briefly defining Lafora disease and the prognosis of the condition—no plan,[globalgenes.org]
  • LD has an unfavorable prognosis, and patients usually die within 10 years of the clinical findings at onset. 4.[pubs.sciepub.com]
  • .  The prognosis is very poor; death occurring at an average of 4–6 years after the onset. 49.[slideshare.net]


  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Full Text View PDF Content type: Research View Full Text View PDF Content type: Research View Full Text View PDF Content type: Review Treatment of Satoyoshi syndrome: a systematic review Satoyoshi syndrome is a multisystemic rare disease of unknown etiology[ojrd.biomedcentral.com]
  • Mar 10th, 2015 - Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown.[allmedx.com]
  • Myoclonus can also be classified by etiology (the underlying cause), which is described in more detail below. Physiologic Myoclonus This type of myoclonus occurs in healthy people and rarely requires treatment.[bcm.edu]
  • Similarities among the deposits of type IV glycogenosis and Lafora bodies suggest a common structure and, possibly, common etiological factors ( 16 ).[academic.oup.com]


  • Epidemiology [ edit ] PME accounts for less than 1% of epilepsy cases at specialist centres. [ citation needed ] The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders[en.wikipedia.org]
  • Epidemiology of the mitochondrial DNA 8344A G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. J Neurol Neurosurg Psychiatry 2003; 74: 1158–1159. PubMed CrossRef Google Scholar 9. DeVivo DC, DiMauro S.[link.springer.com]
  • References 1 The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967, Epilepsia, 1975 , vol. 16 (pg. 1 - 66 ) 2 Natural history of epileptic seizures, Epilepsia, 1983 , vol. 24 (pg. 297 - 312 ) 3 Progressive myoclonus epilepsies: specific[academic.oup.com]
Sex distribution
Age distribution


  • The nosology and pathophysiology of myoclonus. Mov Disord 1982:196–248. Google Scholar 2. Fahn S, Marsden CD, Van Woert MH. Definition and classification of myoclonus. Adv Neurol 1986; 43:1–5. PubMed Google Scholar 3. Nirenberg MJ, Frucht SJ.[link.springer.com]


  • N-acetylcysteine (NAC) is a sulfhydryl antioxidant that increases cellular glutathione and the activity levels of several antioxidant enzymes and has additional actions that contribute to its demonstrated efficacy in preventing or decreasing damage in[neurology.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • The protein may be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules.[antibodies-online.com]
  • May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans).[mybiosource.com]

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