Circadian Rhythm Protein CLOCK linked to severe epilepsy

In new research published in Neuron this week researchers from Brown University in Providence, RI suggests that disruption of  the circadian rhythm protein CLOCK alters cortical circuits and may lead to generation of focal epilepsy.  Dr. Liu and her colleagues used resected brain tissue from epilepsy surgery for focal cortical dyplasias and analysed the  tissue's transcriptome, or a survey of the messenger RNA (mRNA) in any given population of cells. They ...
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Ataluren shows promise for muscular dystrophy in phase 3 clinical trial


In a paper just published online in the journal The Lancet , Craig McDonald and colleagues at 53 study sites in 18 countries describe the clinical benefit of using the drug ataluren for a certain group of patients carrying a specific "nonsense mutation" for Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is a progressive and life-limiting X-linked recessive disorder caused by mutations in the DMD gene that result in reduced or absent dystrophin production. Dystrophin is part of th...
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ICNA Future Leaders Programme

  At the Amsterdam ICNC in May 2016 interested members of the ICNA met to discuss a way forward to provide support for trainees and newly qualified child neurologists (within 5 years) Summary of key points raised at this meeting were: Education Direction of how to learn and what to learn for trainees Educational meetings – especially focused on-site educational meetings Research How to put a grant together (Plan a symposium at the next ICNC2018 on this) Training Support from the EB with gui...
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Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features - New Gene identified

  Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed variants in the WDR26 gene to a rare syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. In a study published in the American Journal of Human Genetics Deardorff, first author Cara M. Skraban, MD, also of CHOP, and co-authors from medical centers in six countries reported on  15 individuals now known to have this recognizable syndrom...
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International Congress on Neuromuscular Diseases (ICNMD2018)


Dear Colleagues,  I am very pleased to invite you to the International Congress on Neuromuscular Diseases (ICNMD2018), which will take place in Vienna, Austria, from July 6 - 10, 2018. The ICNMD is organized on behalf of the Applied Research Group on Neuromuscular Diseases of the World Federation of Neurology.  Since 2014, the Congress has taken place in two-year cycles. This will be the 15th International Congress, following upon previous meetings in Nice (2014) and Toronto (2016). Fu...
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