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 …

Neurobiology of rodent self-grooming and its value for translational neuroscience

AV Kalueff, AM Stewart, C Song, KC Berridge… - Nature Reviews …, 2016 - nature.com
Self-grooming is a complex innate behaviour with an evolutionarily conserved sequencing
pattern and is one of the most frequently performed behavioural activities in rodents. In this …

The microglial innate immune receptor TREM2 is required for synapse elimination and normal brain connectivity

F Filipello, R Morini, I Corradini, V Zerbi, A Canzi… - Immunity, 2018 - cell.com
The triggering receptor expressed on myeloid cells 2 (TREM2) is a microglial innate immune
receptor associated with a lethal form of early, progressive dementia, Nasu-Hakola disease …

Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

The synaptic vesicle cycle revisited: new insights into the modes and mechanisms

NL Chanaday, MA Cousin, I Milosevic… - Journal of …, 2019 - Soc Neuroscience
Neurotransmission is sustained by endocytosis and refilling of synaptic vesicles (SVs)
locally within the presynapse. Until recently, a consensus formed that after exocytosis, SVs …

Autism spectrum disorder-like behavior caused by reduced excitatory synaptic transmission in pyramidal neurons of mouse prefrontal cortex

H Sacai, K Sakoori, K Konno, K Nagahama… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is thought to result from deviation from normal development
of neural circuits and synaptic function. Many genes with mutation in ASD patients have …

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 …

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

[图书][B] Translational mouse models of autism: advancing toward pharmacological therapeutics

TM Kazdoba, PT Leach, M Yang, JL Silverman… - 2016 - Springer
Animal models provide preclinical tools to investigate the causal role of genetic mutations
and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and …

Behavioural methods used in rodent models of autism spectrum disorders: current standards and new developments

M Wöhr, ML Scattoni - Behavioural brain research, 2013 - Elsevier
Autism is a behaviourally defined disorder including attenuated or abnormal social
interaction and communication, as well as aberrant repetitive behaviour, with symptoms …