Artículos sobre SCN2A

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Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy

SCN2A encodes NaV1.2, an excitatory neuron voltage-gated sodium channel and a major monogenic cause of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE) and autism. Clinical presentation and ...

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prime editing gene correction of the developmental epileptic and encephalopathy causing scn2a-l1342p variant in ipsc-derived neurons and organoids

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems ...

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

In SCN2A-related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of variants, to identify suitable candidates for precision therapies. Here we classify clinical ...

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties

Hundreds of genetic variants in the voltage-gated sodium channel NaV1.2 are associated with a spectrum of neurodevelopmental disorders with or without epilepsy. High throughput automated patch-clamp recording of several variants revealed more ...

pmc.ncbi.nlm.nih.gov

Progress in understanding and treating SCN2A-mediated disorders

Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel NaV1.2. ...

pmc.ncbi.nlm.nih.gov

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of ...

onlinelibrary.wiley.com

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical Organoids

SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2-L1342P, are monogenic causes of epilepsy. In this human-induced pluripotent stem cell model system, we aim to investigate the molecular and cellular mechanisms underlying the ...

onlinelibrary.wiley.com

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