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First model of mitochondrial epilepsy developed


Researchers from Trinity College Dublin publishing in BRAIN describes for the first time a model of mitochondrial epilepsy. Mitochondrial disease is one of the most common forms of genetic diseases, affecting one in 9,000 births in Ireland with debilitating consequences. A quarter of patients with mitochondrial disease have epilepsy which is often severe and resistant towards conventional antiepileptic drugs. Currently no animal models are available to provide a mechanistic understanding of the condition. The current study has thrown light at the important role that astrocytes play in driving seizure generation in mitochondrial epilepsy. They recreated a novel brain slice model by the application...
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ICNA

US FDA approves world's most expensive drug Zolgensma one-time treatment for SMA

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Swiss drugmaker Novartis has received US approval for its spinal muscular atrophy gene therapy Zolgensma® (onasemnogene abeparvovec-xioiT) for the treatment of pediatric patients less than 2years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene). The one time treatment drug is priced at a record $2.125m. Novartis executives have defended the price, saying a one-time treatment is more valuable than expensive long-term treatments that cost several hundred thousand dollars a year. Zolgensma® is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene...
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ICNA

Trigger region found for absence epileptic seizures

190425104319_1_900x600 Spike-wave discharges can be seen in the electrocorticograms (ECoGs) from the left and right somatosensory cortices (SSCs) of an Stxbp1+/? mouse. A portion of the spike-wave discharge is expanded in green below. Credit: RIKEN
Kazuhiro Yamakawa and his team at the RIKEN Center for Brain Science (CBS) in Japan has shown that absence epilepsy can be triggered by impaired communication between two brain regions: the cortex and the striatum. The researchers took STXBP1 and SCN2A genes  created mice with one normal gene and one mutated gene -- a condition called haplodeficiency, which is different from a complete knockout. They showed that Spike Wave Discharges (SWD)  can be blocked by drugs than inhibit neurons from exciting each other. The scientists injected a neuronal inhibitor into several brain regions hoping to find which ones were related to the seizures. They...
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ICNA

Did Leonardo da Vinci have ADHD?

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Leonardo da Vinci produced some of the world’s most iconic art, but historical accounts of his work practices and behaviour show that he struggled to complete projects. Drawing on these accounts, Professor Catani lays out the evidence supporting his hypothesis that, as well as explaining his chronic procrastination, ADHD could have been a factor in Leonardo’s extraordinary creativity and achievements across the arts and sciences. Professor Catani, from the Institute of Psychiatry, Psychology & Neuroscience at King’s, says: ‘While impossible to make a post-mortem diagnosis for someone who lived 500 years ago, I am confident that ADHD is the most...
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ICNA

Innovative prospects in drug development for epilepsy

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According to a new study published on April 29 in Neuron, Tel Aviv University researchers identify a homeostatic mechanism that maintains activity set points in neural circuits which ensures the return to a set point after each event that increases or decreases brain activity. The research has raised potential implications for development of drugs to manage a range of neurological and neurodegenerative conditions including epilepsy. Research for the study was conducted by TAU PhD students Boaz Styr and Daniel Zarhin from Prof. Slutsky's team and PhD student Nir Gonen under the joint supervision of Prof. Slutsky and Prof. Eytan Ruppin of...
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