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Lacosamide reduces pain in a subset of patients with small fibre neuropathy caused by mutations in Nav1.7 sodium channels. Labau et al. provide biophysical data that may explain why a subset of Nav1.7 variants differentially respond to lacosamide. https://bit.ly/2v3MCnK pic.twitter.com/fpJ53QlBof
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Hippocampal vascularization patterns vary between individuals. Perosa et al. show that a mixed hippocampal supply, as opposed to a single one, provides a hippocampal vascular reserve that protects against cognitive impairment. https://bit.ly/2uhftVD pic.twitter.com/JoNlEG6Lak
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Brain proslijedio/la je Tweet
I think we are doing well so far as
@Brain1878 little sister!!https://twitter.com/braincomms/status/1224289892697624577 …
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Van Bergen et al. add to the growing number of ‘trappopathies’ by identifying a pathogenic variant in TRAPPC4 in children with early-onset seizures and developmental delay. https://bit.ly/2RRqR3m pic.twitter.com/K6oNMnbhLT
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Inborn errors of CACNA1A-encoded P/Q-type calcium channels give rise to childhood absence epilepsy. Miao et al. show that adult loss of Cacna1a in mice replicates the phenotype by distinct thalamic bursting mechanisms. https://bit.ly/36V4L4e pic.twitter.com/B5J7cBltqF
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He et al. reveal how focal to bilateral tonic-clonic seizures reshape the brain, promoting thalamus-mediated cortico-cortical communication and reducing basal ganglia–thalamus interactions through the direct basal ganglia pathway. https://bit.ly/2GIXZ73 pic.twitter.com/RSlXy9tPfn
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Betthauser et al. show that individuals with elevated levels of both pathological beta-amyloid and tau show faster cognitive decline during late middle-age than those with one or no elevated biomarkers. https://bit.ly/2RC8Upw pic.twitter.com/K06Ynl7F05
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Iturria-Medina et al. develop a machine-learning algorithm that can infer the intrinsic temporal information contained in large-scale datasets for neurodegenerative diseases. https://bit.ly/31b9ePk pic.twitter.com/2WunhFo3Ye
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Brain proslijedio/la je Tweet
Matsukawa et al. have just published their work in
@braincomms about "Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy" . Find it
at https://bit.ly/2RYV13F . @UTokyo_News_en@TMDUniversity#openaccess#neuroscience#stemcellspic.twitter.com/XudE6T1X3w
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In spinal muscular atrophy, chronic low levels of SMN lead to neurodegeneration via accumulation of R-loops and DNA damage. Kannan, Jiang et al. show that overexpression of ZPR1 prevents R-loops and rescues DNA damage in cells and a mouse model. https://bit.ly/2S2ty1b pic.twitter.com/hx42EN5P3y
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Mak et al. identify a cluster of de novo truncating mutations in the MN1 gene in patients with a novel syndrome comprising midface hypoplasia, severe language delay and distinctive brain malformations. https://bit.ly/38LT3uf pic.twitter.com/jK3WMpynZx
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Sun et al. identify an abnormal GGC repeat expansion in the 5’ region of NOTCH2NLC in 11 families with essential tremor. The findings suggest that essential tremor is a family of diseases with high clinical and genetic heterogeneity. https://bit.ly/37xODqx pic.twitter.com/nEbMaSxf8M
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AI-analyzed blood test can predict the progression of neurodegenerative disease https://medicalxpress.com/news/2020-01-ai-analyzed-blood-neurodegenerative-disease.html … via
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Huin et al. expand the phenotypic spectrum of homozygous GRN (progranulin) mutations to include late-onset frontotemporal dementia, and provide new insights into GRN disease mechanisms. https://bit.ly/38IYFVY pic.twitter.com/6rWmllPtNO
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Crapser et al. show that eliminating microglia from a mouse model of
#Huntington’s disease reduces motor and cognitive impairments, mutant huntingtin accumulation, and striatal volume loss. https://bit.ly/2t4VWqW pic.twitter.com/PIAGmBLZwl
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Subependymal giant cell astrocytomas (SEGAs) cause neurological complications in patients with tuberous sclerosis complex. Bongaarts et al. identify MAPK/ERK activation in SEGAs, and propose that the pathway could be a new treatment target. https://bit.ly/2U0FkeK pic.twitter.com/5mirhkYPxU
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Freezing of gait is disabling and difficult to treat. Weiss et al. review recent advances in imaging, genetics, neurophysiology and neuromodulation, and propose topics for future research. https://bit.ly/30O02jF pic.twitter.com/YAexgojjcZ
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Psychiatrist Adolf Meyer was also a neuroanatomist. Schijns and Koehler explore how Meyer’s anatomical studies enabled him to describe the temporal loop of the optic radiation, known today as ‘Meyer’s loop’. https://bit.ly/37qE8W3 pic.twitter.com/6UJog1aDYe
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Brain proslijedio/la je Tweet
Saadon-Grosman et al. just published their work in
@braincomm The "creatures" of the human cortical somatosensory system Multiple somatosensory homunculi . Read it
at https://bit.ly/2TMNxDl ! @HebrewU#neuroscience#openaccess#opensciencepic.twitter.com/pGpVvmljUg
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At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy. Liu et al. report the long-term outcomes of resective surgery in more than 350 patients, including seizure control rates after 1, 4 and 10 years.https://bit.ly/3aCQwo7
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