Journal article

Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum

Kay Richards, Nikola Jancovski, Eric Hanssen, Alan Connelly, Steve Petrou

Brain Research | ELSEVIER | Published : 2021


Dravet Syndrome (DS) is a genetic neurodevelopmental disease. Recurrent severe seizures begin in infancy and co-morbidities follow, including developmental delay, cognitive and behavioral dysfunction. A majority of DS patients have an SCN1A heterozygous gene mutation. This mutation causes a loss-of-function in inhibitory neurons, initiating seizure onset. We have investigated whether the sodium channelopathy may result in structural changes in the DS model independent of seizures. Morphometric analyses of axons within the corpus callosum were completed at P16 and P50 in Scn1a heterozygote KO male mice and their age-matched wild-type littermates. Trainable machine learning algorithms were use..

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Funding Acknowledgements

We thank Associate Professor Finch, Deputy Director, Statistical Consulting Centre, Melbourne Statistical Consulting Platform, University of Melbourne, for assistance. We thank Prof. Kazuhiro Yamakawa (RIKEN Brain Science Institute) for donating Dravet syndrome mice. The Florey Institute of Neuroscience and Mental Health is supported by infrastructure funds from the Department of Health, State Government of Victoria.