doi:10.1093/brain/awy038 BRAIN 2018: 141; 621 | 621 In this issue of Brain David Brenner and colleagues report a The full spectrum of manifestations of glutamate-gated ion hot-spot of mutations in the kinesin family gene KIF5A channel mutations remains to be determined. Indeed, given causing familial amyotrophic lateral sclerosis, adding to their importance in excitatory neurotransmission, it is per- the existing genetic evidence implicating altered cytoskeletal haps puzzling that glutamate receptors only joined the list function and intracellular transport in this disease. Two of genetic channelopathies relatively recently, lagging behind other papers broaden the range of manifestations of genetic GABA , glycine and nicotinic receptors, and voltage-gated disorders involving glutamate receptors. Juliette Piard, potassium, sodium, calcium and chloride channels. A possible George Umanah, Frederike Harms and co-workers identify explanation is that genetic defects of glutamate receptors in a mutation in the AAA + family ATPase Thorase, encoded general have more extensive consequences for brain function by ATAD1, which leads to lethal encephalopathy and than several mutations of other types of channels, which arthrogryposis, while Andrew Fry, Katherine Fawcett and manifest with episodic symptoms such as headaches, seizures, colleagues report an association between de novo muta- ataxia, dyskinesia and periodic paralysis, but are otherwise tions of GRIN1, which codes for the GluN1 subunit of compatible with survival and reproduction. NMDA receptors, and extensive bilateral polymicrogyria, The cover of this issue relates to an article by Karina with several probands presenting with developmental Gonza´lez Ota´rula and co-workers, who relate functional delay, microcephaly, visual impairment or refractory epi- MRI to subsequent intracerebral EEG in order to identify lepsy. The association between NMDA receptors and the haemodynamic correlates of high-frequency oscillations abnormalities of cortical development is especially intri- (HFOs). HFOs are also the topic of a paper by Su Liu and guing, because previous reports on GRIN1 mutations colleagues, who use machine learning to identify features to have only identiﬁed relatively minor structural abnormal- distinguish pathological oscillations arising from seizure ities in association with various levels of intellectual disabil- onset zones from physiological oscillations in functionally ity, epilepsy or movement disorders. Some of the important cortex. A helpful video abstract is available on polymicrogyria-associated mutations were shown to the Brain YouTube channel. confer a gain of function, providing a tentative link to animal studies that have used NMDA receptor agonists Dimitri M. Kullmann to induce cortical malformations. London, UK The Author(s) (2018). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: firstname.lastname@example.org Downloaded from https://academic.oup.com/brain/article-abstract/141/3/621/4911354 by Ed 'DeepDyve' Gillespie user on 22 March 2018
Brain – Oxford University Press
Published: Mar 1, 2018
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