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 …

[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 …

De novo mutations in epileptic encephalopathies

Nature, 2013 - nature.com
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Motor coordination in autism spectrum disorders: a synthesis and meta-analysis

KA Fournier, CJ Hass, SK Naik, N Lodha… - Journal of autism and …, 2010 - Springer
Are motor coordination deficits an underlying cardinal feature of Autism Spectrum Disorders
(ASD)? Database searches identified 83 ASD studies focused on motor coordination, arm …

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 interneurons shape the functional maturation of the cortex

C Le Magueresse, H Monyer - Neuron, 2013 - cell.com
From early embryonic development to adulthood, GABA release participates in the
construction of the mammalian cerebral cortex. The maturation of GABAergic …

The genetics of autism

R Muhle, SV Trentacoste, I Rapin - Pediatrics, 2004 - publications.aap.org
Autism is a complex, behaviorally defined, static disorder of the immature brain that is of
great concern to the practicing pediatrician because of an astonishing 556% reported …

GABAA receptors: immunocytochemical distribution of 13 subunits in the adult rat brain

S Pirker, C Schwarzer, A Wieselthaler, W Sieghart… - Neuroscience, 2000 - Elsevier
GABAA receptors are ligand-operated chloride channels assembled from five subunits in a
heteropentameric manner. Using immunocytochemistry, we investigated the distribution of …

The neuroanatomical and neurochemical basis of conditioned fear

M Fendt, MS Fanselow - Fear and Anxiety, 2013 - taylorfrancis.com
After a few pairings of a threatening stimulus with a formerly neutral cue, animals and
humans will experience a state of conditioned fear when only the cue is present …