A De Novo Missense Variant of SCN2A: Implications and Limitations for Understanding Clinical Phenotype and Treatment Recommendations.
| Autor: | Deutsch SI; Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk., Burket JA; Department of Molecular Biology & Chemistry, Christopher Newport University, Newport News, VA. |
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| Jazyk: | angličtina |
| Zdroj: | Clinical neuropharmacology [Clin Neuropharmacol] 2021 Jul-Aug 01; Vol. 44 (4), pp. 138-140. |
| DOI: | 10.1097/WNF.0000000000000457 |
| Abstrakt: | Abstract: Autism spectrum disorder can be associated with a variety of genetic findings. We report a heterozygous de novo missense variant of SCN2A, the gene coding a voltage-gated sodium ion channel enriched in the axon initial segment and nodes of Ranvier of "immature" neocortical pyramidal neurons. With further understanding of the neurodevelopmental and functional effects of this missense variant on neuronal excitability and neocortical circuitry, there may be targeted pharmacotherapeutic interventions, potentially with "disease-modifying effects." Competing Interests: Conflicts of Interest and Source of Funding: The authors have no conflicts of interest to declare. (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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