Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

AAV-based in vivo gene therapy for neurological disorders

Q Ling, JA Herstine, A Bradbury, SJ Gray - Nature Reviews Drug …, 2023 - nature.com
Recent advancements in gene supplementation therapy are expanding the options for the
treatment of neurological disorders. Among the available delivery vehicles, adeno …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

β-Hydroxybutyrate: a signaling metabolite

JC Newman, E Verdin - Annual review of nutrition, 2017 - annualreviews.org
Various mechanisms in the mammalian body provide resilience against food deprivation
and dietary stress. The ketone body β-hydroxybutyrate (BHB) is synthesized in the liver from …

Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans

D Vormstein-Schneider, JD Lin, KA Pelkey… - Nature …, 2020 - nature.com
Recent success in identifying gene-regulatory elements in the context of recombinant adeno-
associated virus vectors has enabled cell-type-restricted gene expression. However, within …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen… - Brain, 2022 - academic.oup.com
Brain voltage-gated sodium channel NaV1. 1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …

Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome

JS Kaplan, N Stella, WA Catterall… - Proceedings of the …, 2017 - National Acad Sciences
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its
efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD) …

Hippocampal GABAergic inhibitory interneurons

KA Pelkey, R Chittajallu, MT Craig… - Physiological …, 2017 - journals.physiology.org
In the hippocampus GABAergic local circuit inhibitory interneurons represent only~ 10–15%
of the total neuronal population; however, their remarkable anatomical and physiological …

Fast-spiking, parvalbumin+ GABAergic interneurons: From cellular design to microcircuit function

H Hu, J Gan, P Jonas - Science, 2014 - science.org
Background Neuronal networks in the brain include glutamatergic principal neurons and
GABAergic interneurons (GABA, γ-aminobutyric acid). The latter may be a minority cell type …