The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

[HTML][HTML] Excitation/inhibition imbalance in animal models of autism spectrum disorders

E Lee, J Lee, E Kim - Biological psychiatry, 2017 - Elsevier
Imbalances between excitation and inhibition in synaptic transmission and neural circuits
have been implicated in autism spectrum disorders. Excitation and inhibition imbalances are …

The cerebellar involvement in autism spectrum disorders: from the social brain to mouse models

L Mapelli, T Soda, E D'Angelo, F Prestori - International journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

Neurobiological bases of autism–epilepsy comorbidity: a focus on excitation/inhibition imbalance

Y Bozzi, G Provenzano… - European Journal of …, 2018 - Wiley Online Library
Autism spectrum disorders (ASD) and epilepsy are common neurological diseases of
childhood, with an estimated incidence of approximately 0.5–1% of the worldwide …

GABAergic signaling as therapeutic target for autism spectrum disorders

G Cellot, E Cherubini - Frontiers in pediatrics, 2014 - frontiersin.org
γ-Aminobutyric acid (GABA), the main inhibitory neurotransmitter in the adult brain, early in
postnatal life exerts a depolarizing and excitatory action. This depends on accumulation of …

Autism spectrum disorder and the cerebellum

EBE Becker, CJ Stoodley - International review of neurobiology, 2013 - Elsevier
The cerebellum has been long known for its importance in motor learning and coordination.
Recently, anatomical, clinical, and neuroimaging studies strongly suggest that the …

GABAergic neuron-specific loss of Ube3a causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility

MC Judson, ML Wallace, MS Sidorov, AC Burette, B Gu… - Neuron, 2016 - cell.com
Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder
associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) …

Glial GABA, synthesized by monoamine oxidase B, mediates tonic inhibition

BE Yoon, J Woo, YE Chun, H Chun, S Jo… - The Journal of …, 2014 - Wiley Online Library
Key points Here we show that glial gamma aminobutyric acid (GABA) is produced by
monoamine oxidase B (MAOB), utilizing a polyamine, putrescine. The concentration of …

Epilepsy in Angelman syndrome: A scoping review

D Samanta - Brain and Development, 2021 - Elsevier
Angelman Syndrome (AS) is characterized by severe developmental delays including
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …

The autism and Angelman syndrome protein Ube3A/E6AP: The gene, E3 ligase ubiquitination targets and neurobiological functions

N Khatri, HY Man - Frontiers in molecular neuroscience, 2019 - frontiersin.org
UBE3A is a gene implicated in neurodevelopmental disorders. The protein product of
UBE3A is the E3 ligase E6-associated protein (E6AP), and its expression in the brain is …