Sodium channelopathies of skeletal muscle and brain
M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …
electrically excitable cells. Mutations in them cause a wide range of diseases. These …
Neural mechanisms underlying repetitive behaviors in rodent models of autism spectrum disorders
T Gandhi, CC Lee - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is comprised of several conditions characterized by
alterations in social interaction, communication, and repetitive behaviors. Genetic and …
alterations in social interaction, communication, and repetitive behaviors. Genetic and …
[HTML][HTML] Paradoxical hyperexcitability from NaV1. 2 sodium channel loss in neocortical pyramidal cells
Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na V 1.2,
are strongly associated with autism spectrum disorder and intellectual disability. An …
are strongly associated with autism spectrum disorder and intellectual disability. An …
Severe deficiency of the voltage-gated sodium channel NaV1. 2 elevates neuronal excitability in adult mice
Scn2a encodes the voltage-gated sodium channel Na V 1.2, a main mediator of neuronal
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
Novel risk loci associated with genetic risk for bipolar disorder among Han Chinese individuals: a genome-wide association study and meta-analysis
HJ Li, C Zhang, L Hui, DS Zhou, Y Li, CY Zhang… - JAMA …, 2021 - jamanetwork.com
Importance The genetic basis of bipolar disorder (BD) in Han Chinese individuals is not fully
understood. Objective To explore the genetic basis of BD in the Han Chinese population …
understood. Objective To explore the genetic basis of BD in the Han Chinese population …
Phenotypes, mechanisms and therapeutics: insights from bipolar disorder GWAS findings
Genome-wide association studies (GWAS) have reported substantial genomic loci
significantly associated with clinical risk of bipolar disorder (BD), and studies combining …
significantly associated with clinical risk of bipolar disorder (BD), and studies combining …
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
R Asadollahi, I Delvendahl, R Muff, G Tan… - Human Molecular …, 2023 - academic.oup.com
Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel
Na V 1.2, cause different types of epilepsy or intellectual disability (ID)/autism without …
Na V 1.2, cause different types of epilepsy or intellectual disability (ID)/autism without …
Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36
children in the United States. While neurons have been the focus of understanding ASD, an …
children in the United States. While neurons have been the focus of understanding ASD, an …
[HTML][HTML] Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms
Autism spectrum disorder (ASD) affects~ 2% of the population in the US, and monogenic
forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A …
forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A …
Genetic landscape of Rett syndrome spectrum: improvements and challenges
S Vidal, C Xiol, A Pascual-Alonso… - International journal of …, 2019 - mdpi.com
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects
females, resulting in severe cognitive and physical disabilities, and is one of the most …
females, resulting in severe cognitive and physical disabilities, and is one of the most …