[HTML][HTML] Synaptic neurexin complexes: a molecular code for the logic of neural circuits

TC Südhof - Cell, 2017 - cell.com
Synapses are specialized junctions between neurons in brain that transmit and compute
information, thereby connecting neurons into millions of overlapping and interdigitated …

Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

[HTML][HTML] Advancing epilepsy genetics in the genomic era

CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

[HTML][HTML] Genetic landscape of common epilepsies: advancing towards precision in treatment

S Thakran, D Guin, P Singh, P Singh, S Kukal… - International journal of …, 2020 - mdpi.com
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …

[HTML][HTML] Alternative splicing of presynaptic neurexins differentially controls postsynaptic NMDA and AMPA receptor responses

J Dai, J Aoto, TC Südhof - Neuron, 2019 - cell.com
AMPA-and NMDA-type glutamate receptors mediate distinct postsynaptic signals that differ
characteristically among synapses. How postsynaptic AMPA-and NMDA-receptor levels are …

Copy number variation plays an important role in clinical epilepsy

H Olson, Y Shen, J Avallone, BR Sheidley… - Annals of …, 2014 - Wiley Online Library
Objective To evaluate the role of copy number abnormalities detectable using chromosomal
microarray (CMA) testing in patients with epilepsy at a tertiary care center. Methods We …

Neuronal impact of patient-specific aberrant NRXN1α splicing

E Flaherty, S Zhu, N Barretto, E Cheng, PJM Deans… - Nature …, 2019 - nature.com
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …

Juvenile myoclonic epilepsy: a system disorder of the brain

P Wolf, EMT Yacubian, G Avanzini, T Sander… - Epilepsy research, 2015 - Elsevier
The prevailing understanding of generalized epilepsy is shaped by the traditional definition
that “the responsible neuronal discharge takes place, if not throughout the entire grey matter …

Contactin‐associated protein‐like 2, a protein of the neurexin family involved in several human diseases

M Saint‐Martin, B Joubert… - European Journal of …, 2018 - Wiley Online Library
Abstract Contactin‐associated protein‐like 2 (CASPR2) is a cell adhesion protein of the
neurexin family. Proteins of this family have been shown to play a role in the development of …

Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders

Z Hu, X Xiao, Z Zhang, M Li - Molecular psychiatry, 2019 - nature.com
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …