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1,003 results

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Page 1
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. Large cohort studies and variant-specific electrophysiology, have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype corre …
To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. Large cohort studies …
CRISPR activation for SCN2A-related neurodevelopmental disorders.
Tamura S, Nelson AD, Spratt PWE, Hamada EC, Zhou X, Kyoung H, Li Z, Arnould C, Barskyi V, Krupkin B, Young K, Zhao J, Holden SS, Sahagun A, Keeshen CM, Lu C, Ben-Shalom R, Taloma SE, Schamiloglu S, Li YC, Min L, Jenkins PM, Pan JQ, Paz JT, Sanders SJ, Matharu N, Ahituv N, Bender KJ. Tamura S, et al. Nature. 2025 Oct;646(8086):983-991. doi: 10.1038/s41586-025-09522-w. Epub 2025 Sep 17. Nature. 2025. PMID: 40963013 Free PMC article.
Here, using SCN2A haploinsufficiency as a proof-of-concept, we show that upregulation of the existing functional gene copy through CRISPR activation (CRISPRa) can rescue neurological-associated phenotypes in Scn2a haploinsufficient mice. We first show that restoring …
Here, using SCN2A haploinsufficiency as a proof-of-concept, we show that upregulation of the existing functional gene copy through CR …
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ. Sanders SJ, et al. Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Trends Neurosci. 2018. PMID: 29691040 Free PMC article. Review.
SCN2A encodes the neuronal sodium channel Na(V)1.2. Functional assays demonstrate strong correlation between genotype and phenotype. ...The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelop …
SCN2A encodes the neuronal sodium channel Na(V)1.2. Functional assays demonstrate strong correlation between genotype and phenotype. …
SCN2A channelopathies: Mechanisms and models.
Hedrich UBS, Lauxmann S, Lerche H. Hedrich UBS, et al. Epilepsia. 2019 Dec;60 Suppl 3:S68-S76. doi: 10.1111/epi.14731. Epilepsia. 2019. PMID: 31904120 Review.
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with early or late on …
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with d …
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y. Zeng Q, et al. Front Mol Neurosci. 2022 Mar 30;15:809951. doi: 10.3389/fnmol.2022.809951. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35431799 Free PMC article.
OBJECTIVE: The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A variants. METHODS: The SCN2A variants were detected by next-generation sequencing. ...All patients had abnormal MRI findings with deve …
OBJECTIVE: The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A v …
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL. Thompson CH, et al. J Gen Physiol. 2023 Oct 2;155(10):e202313375. doi: 10.1085/jgp.202313375. Epub 2023 Aug 14. J Gen Physiol. 2023. PMID: 37578743 Free PMC article.
Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for autism spectrum disorder (ASD) and non …
Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurod …
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM. Wolff M, et al. Epilepsia. 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. Epilepsia. 2019. PMID: 31904126 Review.
Pathogenic variants in the SCN2A gene are associated with a variety of neurodevelopmental phenotypes, defined in recent years through multicenter collaboration. ...There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disabi …
Pathogenic variants in the SCN2A gene are associated with a variety of neurodevelopmental phenotypes, defined in recent years through …
Selective loss of Scn2a in ventral tegmental area dopaminergic neurons leads to dopamine system hypofunction and autistic-like behaviors.
Li L, Huang Q, Hu J, Jin M, Zhuo Y, Ke W, He Q, Xiao Y, Zhang X, Wang W, Cheng TL, Tai Y, Guo F, Yu J, Yulong Li, He J, Li B, Shu Y. Li L, et al. Neuron. 2025 Sep 17;113(18):2997-3014.e8. doi: 10.1016/j.neuron.2025.06.003. Epub 2025 Jul 10. Neuron. 2025. PMID: 40645182
Similar alterations were observed in Scn2a heterozygous mice. Importantly, acute treatment with levodopa alleviates non-motor behavior deficits. Together, the results reveal that Scn2a loss in VTA DANs alone causes autistic-like behaviors through a dopamine-hypofunc …
Similar alterations were observed in Scn2a heterozygous mice. Importantly, acute treatment with levodopa alleviates non-motor behavio …
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373 Free article.
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. ...Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium ch …
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and n …
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N, Cooper JN, Elisha DH, Zalta M, Mittal J, Cohen D, Monterrubio A, Hossain R, Sangadi A, Mittal R, Eshraghi AA. DiStefano N, et al. J Clin Med. 2025 May 28;14(11):3790. doi: 10.3390/jcm14113790. J Clin Med. 2025. PMID: 40507552 Free PMC article. Review.
This systematic review aims to explore the relationship between SCN2A mutations and ASD phenotypes. Methods: This review systematically analyzed data from studies reporting SCN2A mutations in individuals diagnosed with ASD. ...Understanding the diverse genotype-phen …
This systematic review aims to explore the relationship between SCN2A mutations and ASD phenotypes. Methods: This review systematical …
1,003 results