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[ Childhood Disorder Called PKD Linked To Genetic Mutations ]

Childhood Disorder Called PKD Linked To Genetic Mutations

A large, international team of researchers led by scientists at the University of California, San Francisco has identified the gene that causes a rare childhood neurological disorder called PKD/IC, or "paroxysmal kinesigenic dyskinesia with infantile convulsions, " a cause of epilepsy in babies and movement disorders in older children. The study involved clinics in cities as far flung as Tokyo, New York, London and Istanbul and may improve the ability of doctors to diagnose PKD/IC, and it may shed light on other movement disorders, like Parkinson's disease. The culprit behind the disease turns out to be a mysterious gene found in the brain called PRRT2. Nobody knows what this gene does, and it bears little resemblance to anything else in the human genome. "This is both exciting and a little bit scary, " said Louis Ptacek, MD, who led the research.

Marinus Pharmaceuticals Experimental Epilepsy Treatment Shows Promise In Open-Label Extension Study

Marinus Pharmaceuticals, Inc., a specialty pharmaceutical company, announced that its neurosteroid ganaxolone which is currently under study for the treatment of partial onset seizures (POS), reported positive data in the open-label extension follow up to the company's Phase 2 clinical trial. The data reflects the replication of the effects seen in the double-blind study. Patients who enrolled in the study demonstrated an overall decrease of 23.2% in median weekly seizure frequency (MWSF) from baseline of the Phase 2 study. The data were presented at the 65th Annual Meeting of the American Epilepsy Society (AES) in early December. In the 2 year open-label extension to the double-blind Phase 2 study, 123 subjects (94% of those eligible) took 1200-1500mg/day of ganaxolone for up to 2 years as add-on therapy.

An Answer To A Mysterious Movement Disorder Discovered In The Genome

Children with a rather mysterious movement disorder can have hundreds of attacks every day in which they inexplicably make sudden movements or sudden changes in the speed of their movements. New evidence reported in an early online publication from the January 2012 inaugural issue of Cell Reports, the first open-access journal of Cell Press, provides an answer for them. Contrary to expectations, the trouble stems from a defective version of a little-known gene that is important for communication from one neuron to the next. The findings might lead to new strategies for treating a variety of movement disorders, the researchers say. "People with this disorder look and feel normal, " said Louis Pt├ ─ ek of the University of California, San Francisco. "They might be sitting there, get up to go to the kitchen, and start writhing for five or ten seconds.

Superior Drug Combo For Difficult-To-Control Epilepsy

A combination of two common drugs, lamotrigine and valproate, is more effective in treating difficult-to control epilepsy than other anti-epileptic regimens, according to a University of Washington report published online this week in Neurology, the journal of the American Academy of Neurology. More than 3 million Americans have epilepsy, and about one million of these have a difficult-to-treat form. In a large-scale, retrospective study of a population of patients with very difficult-to-control epilepsy, researchers discovered that only the lamotrigine/valproate treatment regimen, out of the 32 drug combinations studied, significantly decreased seizure frequency in this group. This specific combination reduced seizure frequency by about half, on average, compared to other regimens.

Epilepsy In Children - Adverse Events of Invasive EEG, Study

According to an investigation led by Dr. Thomas Blauwblomme and his team of Great Ormond Street Hospital, London, in the December issue of Operative Neurosurgery, a quarterly supplement to Neurosurgery, official journal of the Congress of Neurological Surgeons, almost half of all children suffering with severe epilepsy who receive invasive electroencephalography (EEG) recordings, experience some type of side effect. The study reveals that no other method can obtain the vital information needed for planning complicated epilepsy procedures that EEG recordings provide. Risks of Invasive EEG in Children? The team examined side effects associated to invasive EEG recordings in 95 children between 1994 and 2009. The majority of epilepsy cases in children can be controlled with drugs, although surgery is highly effective when medications are not successful.

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