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Weed out the seizures
Just when you thought there was little new in epilepsy therapeutics, there comes a double-blind, placebo-controlled trial of a novel compound in 120 people with Dravet syndrome. The fact that this also provides the first class I evidence for the use of cannabidiol in epilepsy, and that the trial participants had an epileptic encephalopathy (defined by multiple seizures types that are pharmacoresistant), makes this all the more astonishing. Convulsive seizures decreased from 12.4 to 5.9 per month with treatment (14.9–14.1 with placebo), p=0.01. As expected, there were more adverse events in the cannabidiol group, such as gastrointestinal symptoms fatigue, fever, somnolence and abnormal liver function tests; these led to more withdrawals in the treatment group.
N Engl J Med. 2017;376(21):2011–2020.
Sham, scam or flim-flam?
With the help of 21st-century technology, we can make increasingly clever mistakes. There are always two sides to a diagnosis — the patient and the physician — and so it is not too surprising that patients are also exploiting these contemporary advances. For neurologists of A Fo Ben’s vintage (when I was in medical school there were only six chromosomes and these were in black and white), a letter in Neurology spells out a sobering tale of ‘Munchausen Syndrome by Genetics’ that explains why we all need to be more genetically literate. A 42-year-old nurse with a functional disorder presented with an apparently certified genetic laboratory report of heterozygous mutations in the GCH1 and TH genes. The report, however, was originally negative and the patient had forged this to simulate that she carried mutations in these genes.
Detail lovers are enthralled by the idea of ‘drilling down’ for answers. Lam and colleagues had the strength of their convictions when investigating two people with Alzheimer’s disease with confusional episodes. Bilateral foramen ovale electrodes yielded abundant mesial temporal lobe spiking in wake and sleep (figure 1). The majority (95%) of these spikes were not detectable using conventional scalp electroencephalogram. Are these findings common in Alzheimer’s or have the authors identified a subtype with hyperexcitability and propensity to covert seizures? Both patients were started on antiepileptic medication, but this did not halt the progression of their cognitive impairment.
Nat Med. 2017;23(6):678–680.
Slicing the salami
Just as salami surgery is the increasingly futile return to theatre to shave a little bit more from the lesion, salami publishing is slicing the data into wafer-thin pieces for publication. A Fo Ben says ‘kudos’ then to the five authors who appear to be publishing a chromosome-by-chromosome series of papers in different journals as, ‘A novel relationship for schizophrenia, bipolar and major depressive disorder Part ‘X’ A hint from chromosome ‘X’’. A Fo Ben would like to see randomised trials published arm by arm (or patient by patient) and functional MRI studies published voxel by voxel.
Mol Neurobiol. 2016 (Epub ahead of print).
Competing interests None declared.
Provenance and peer review Commissioned; internally peer reviewed.