EpilepsyDiagnosis.Org – a novel online diagnostic manual of the epilepsies


Although there is much information on the internet about epilepsy and seizures, there is a glaring absence of a single source of information that aligns with the international classification and provides an organized presentation of the many seizure types and syndromes to help with diagnosis and treatment. This information gap was recognized and led to the ILAE's EpilepsyDiagnosis.Org project which was formally launched in September 2014. It has been a unique resource in medicine and has harnessed the power of the internet to present the complexity of the significant amount of new information now available about the epilepsies and their etiologies, in a manner that is concise, current and accessible to a global audience. It is as relevant to those in primary and secondary health care settings as it is to those in tertiary epileptology practice. It is also showing promise as an instructional and training resource for those who are new to medicine. 

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CDC Guidelines for Infants Exposed to Zika Virus

The U.S Centers for Disease Control have published interim guidelines evaluation and testing of infants born to mothers who may have been exposed to Zika virus during pregnancy. The guidelines suggest that pediatric health providers should work together with obstetric providers in order to identify infants whose mothers may have been exposed to Zika virus during pregnancy and fetal ultrasounds should be reviewed and maternal testing for Zika virus should be considered. Infants with microcephaly or intracranial calcifications born to women who traveled to or resided in an area with Zika virus transmission during pregnancy, and infants born to mothers...
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Leukemia drug dasatinib shows promise for treating duchenne muscular dystrophy

Professor Winder's group at the University of Sheffield investigating the cancer drug, dasatinib, a potent and specific Src tyrosine kinase inhibitor has shown that it decreases the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in dystrophic sapje zebrafish. Tyrosine phosphorylation and degradation of β-dystroglycan is a key event in the aetiology of Duchenne muscular dystrophy. Dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These findings show great...
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CRISPR gene editing successfully treats Duchenne Muscular Dystrophy in Mice

Eric N. Olson
Researchers have shown that they were able to improve muscle function in  Duchenne Muscular Dystrophy mice using in vivo gene editing techniques. Duchenne muscular dystrophy (DMD) affects about 1 out of 5000 male births and caused by mutations in the dystrophin gene. Though DMD has been a target for gene therapy for a long time, progress has been very slow and attempts unsuccessful.The dystrophin gene has 79 sections, or exons, but can retain reasonable function even if a few exons in the middle are lost. Dystrophin works as long as its two ends are intact as in the case of...
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New drug target for Rett syndrome identified

In a paper published on Jan. 4, 2016, in the online Early Edition of the journal Proceedings of the National Academy of Sciences, researchers from Penn State University reports on the discovery of a novel drug target, which could help in the treatment for Rett Syndrome and other forms of autism-spectrum disorders. In this work, the researchers demonstrate that human neurons derived from induced pluripotent stem cells (iPSCs) from patients with Rett syndrome (Rett neurons), show a significant deficit in neuron-specific K+-Cl− cotransporter2 (KCC2) expression, leading to an impaired GABA functional switch from excitation to inhibition. Restoring KCC2 level rescued...
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