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 …

[HTML][HTML] Planar cell polarity: coordinating morphogenetic cell behaviors with embryonic polarity

RS Gray, I Roszko, L Solnica-Krezel - Developmental cell, 2011 - cell.com
Planar cell polarization entails establishment of cellular asymmetries within the tissue plane.
An evolutionarily conserved planar cell polarity (PCP) signaling system employs intra-and …

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

GL Carvill, SB Heavin, SC Yendle, JM McMahon… - Nature …, 2013 - nature.com
Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of
which the majority are of unknown etiology. We perform targeted massively parallel …

Microhomologies are prevalent at Cas9-induced larger deletions

DDG Owens, A Caulder, V Frontera… - Nucleic acids …, 2019 - academic.oup.com
The CRISPR system is widely used in genome editing for biomedical research. Here, using
either dual paired Cas9D10A nickases or paired Cas9 nuclease we characterize …

[HTML][HTML] Molecular genetics and targeted therapy of WNT-related human diseases

M Katoh, M Katoh - International journal of …, 2017 - … .spandidos-publications.com
Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the
WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell …

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

HN Cukier, ND Dueker, SH Slifer, JM Lee… - Molecular autism, 2014 - Springer
Abstract Background Autism spectrum disorders (ASDs) comprise a range of
neurodevelopmental conditions of varying severity, characterized by marked qualitative …

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

A Robinson, S Escuin, K Doudney… - Human …, 2012 - Wiley Online Library
Craniorachischisis (CRN) is a severe neural tube defect (NTD) resulting from failure to
initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the …

Genetics and mechanisms leading to human cortical malformations

DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

[HTML][HTML] Pharmacogenomics in epilepsy

S Balestrini, SM Sisodiya - Neuroscience letters, 2018 - Elsevier
There is high variability in the response to antiepileptic treatment across people with
epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the …

Genetic and epigenetic mechanisms of epilepsy: a review

T Chen, M Giri, Z Xia, YN Subedi… - … disease and treatment, 2017 - Taylor & Francis
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …