A5063994699- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- Neuroinflammation and Neurodegeneration Mechanisms
- Autism Spectrum Disorder Research
- Adenosine and Purinergic Signaling
- Genetics and Neurodevelopmental Disorders
- Neurogenesis and neuroplasticity mechanisms
- Neuroscience and Neural Engineering
- Attention Deficit Hyperactivity Disorder
- HIV Research and Treatment
- Receptor Mechanisms and Signaling
- CRISPR and Genetic Engineering
- Advanced Memory and Neural Computing
- Sleep and Wakefulness Research
- 3D Printing in Biomedical Research
- Pain Mechanisms and Treatments
- RNA regulation and disease
Purdue University West Lafayette
2020-2024
Social behavior is critical for survival and adaptation, which profoundly disrupted in autism spectrum disorders (ASD). withdrawal due to information overload was often described ASD, it suspected that increased basal noise, i.e., excessive background neuronal activities the brain could be a disease mechanism. However, experimental test of this hypothesis limited. Loss-of-function mutations (deficiency) SCN2A , encodes voltage-gated sodium channel Na V 1.2, have been revealed as leading...
Scn2a encodes the voltage-gated sodium channel Na
With the wide adoption of genomic sequencing in children having seizures, an increasing number SCN2A genetic variants have been revealed as causes epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene , is predominantly expressed pyramidal excitatory neurons and supports action potential (AP) firing. One recurrent variant L1342P, which was identified multiple patients with epileptic encephalopathy intractable seizures. However, mechanism underlying L1342P-mediated seizures...
Autism spectrum disorder (ASD) affects ~2% of the population in US, and monogenic forms ASD often result most severe manifestation disorder. Recently, SCN2A has emerged as a leading gene associated with ASD, which abnormal sleep pattern is common comorbidity. encodes voltage-gated sodium channel NaV1.2. Predominantly expressed brain, NaV1.2 mediates action potential firing neurons. Clinical studies found that large portion children deficiency have disorders, severely impact quality life...
Abstract Autism spectrum disorder (ASD) is a major neurodevelopmental affecting 1 in 36 children the United States. While neurons have been focus to understand ASD, an altered neuro-immune response brain may be closely associated with and interaction could play role disease progression. As resident immune cells of brain, microglia regulate development homeostasis via core functions including phagocytosis synapses. ASD has traditionally considered polygenic disorder, recent large-scale human...
Abstract Large‐scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. encodes for voltage‐gated sodium channel isoform 1.2 (Na v 1.2) expressed neurons central nervous system. Homozygous knockout (null) Scn2a mice is perinatal lethal, whereas heterozygous ( +/− ) results mild behavior abnormalities. The Na expression level reported to be around 50–60% wild‐type (WT) level, which indicates that a close 50% reduction may...
Neuronal hyperexcitability is a hallmark of epilepsy. It has been recently shown in rodent models seizures that microglia, the brain's resident immune cells, can respond to and modulate neuronal excitability. However, how human microglia interact with neurons regulate mediated by an epilepsy-causing genetic mutation found patients unknown. The SCN2A gene responsible for encoding voltage-gated sodium channel Nav1.2, one leading contributors monogenic epilepsies. Previously, we demonstrated...
Neuronal hyperexcitability is a hallmark of seizures. It has been recently shown in rodent models seizures that microglia, the brain's resident immune cells, can respond to and modulate neuronal excitability. However, how human microglia interacts with neurons regulate mediated by epilepsy-causing genetic mutation found patients remains unknown. The
Abstract With the wide adoption of whole-exome sequencing in children having seizures, an increasing number SCN2A variants has been revealed as possible genetic causes epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene , is strongly expressed pyramidal excitatory neurons and supports action potential firing. One recurrent variant L1342P, which was identified multiple patients with early-onset encephalopathy intractable seizures. Our biophysical analysis computational modeling...
Abstract Scn2a encodes voltage-gated sodium channel Na V 1.2, which mediates neuronal firing. The current paradigm suggests that 1.2 gain-of-function variants enhance excitability resulting in epilepsy, whereas deficiency impairs contributing to autism. In this paradigm, however, why about a third of patients with still develop seizures remains mystery. Here we challenge the conventional wisdom, reporting is increased severe deficiency. Using unique gene-trap knockout mouse model , found...