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Showing posts from May, 2015

Diamox & Bumetanide, Ion Channels Nav1.4 and Cav1.1, HypoPP, Autism and Seizures

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So you’re going to spend some time at high altitude, climbing mountains or trekking, don’t forgetto pack your Diamox before you leave home, it can save your life .  She is right. Today’s post links together subjects that have been covered previously. It does suggest that there are multiple therapies that may be effective in the large sub-group of autism that is characterized by the neurotransmitter GABA being excitatory (E) rather than inhibitory (I).  The science was covered in the earlier very complicated post:- GABA A Receptors in Autism – How and Why to Modulate Them The growing list of potential therapies is:- ·         Bumetanide (awaiting funding for Stage 3 clinical trials in humans) ·         Micro-dose Clonazepam (trials in mouse models of autism) ·         Diamox (off-label use in autism) ·         Potassium Bromide  - to ...

ASD variants - (mis and missed) diagnoses. Calcium ion channel dysfunctions Cav1.1, 1.2, 1.3 and 1.4

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This post serves to introduce some ideas relevant to a post that is will shortly arrive on calcium ion channel dysfunctions (Cav1.1, 1.2, 1.3 and 1.4). As we have seen, nearly all behavioral and psychiatric disorders are just diagnosed based on observation.  Only in very rare cases is the underlying biological problem diagnosed.  So it is fair to say that these are not accurate medical diagnoses. Under the wide umbrella term of ASD are likely hundreds of thousands of  discrete variants, since ASD generally results from the combination of multiple hits/dysfunctions.  A single one of these dysfunctions is usually not enough to trigger autism, but some may indeed trigger something else noticeable.  A small number of individual hits, like Fragile-X and Retts can trigger autism, but these are the exception. Mis and Missed diagnoses One reader of this blog received a diagnosis for his child as “late onset regressive autism or possible childhood disintegrative dis...