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The following term was not found in PubMed: ENSG00000136531
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. ...Herein, we summarise the core phenotypes of SCN2A-related epilepsy, genotype-phenotype correlations, response to medication and future research....
To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. ...Herein, we summari …
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.
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 Na(V)1.2. Functional assays demon …
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizure …
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH, Hill SF, Yu W. Meisler MH, et al. Nat Rev Neurosci. 2021 Mar;22(3):152-166. doi: 10.1038/s41583-020-00418-4. Epub 2021 Feb 2. Nat Rev Neurosci. 2021. PMID: 33531663 Free PMC article. Review.
The voltage-gated sodium channel alpha-subunit genes comprise a highly conserved gene family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a significant burden of neurological disease. ...
The voltage-gated sodium channel alpha-subunit genes comprise a highly conserved gene family. Mutations of three of these genes, SCN1A, S …
Neurodevelopmental disorders-the history and future of a diagnostic concept
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Morris-Rosendahl DJ, Crocq MA. Morris-Rosendahl DJ, et al. Dialogues Clin Neurosci. 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. Dialogues Clin Neurosci. 2020. PMID: 32699506 Free PMC article. Review.
The identification of recurrently observed copy number variants and disruptive gene variants in ASD (eg, CDH8, 16p11.2, SCN2A) led to the adoption of the genotype-first approach to characterize individuals at the etiological level.....
The identification of recurrently observed copy number variants and disruptive gene variants in ASD (eg, CDH8, 16p11.2, SCN2A) led to …
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 …
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 …
The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex.
Spratt PWE, Ben-Shalom R, Keeshen CM, Burke KJ Jr, Clarkson RL, Sanders SJ, Bender KJ. Spratt PWE, et al. Neuron. 2019 Aug 21;103(4):673-685.e5. doi: 10.1016/j.neuron.2019.05.037. Epub 2019 Jun 20. Neuron. 2019. PMID: 31230762 Free PMC article.
Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the encoded protein Na(V)1.2, a sodium channel important for action potential initiation and pr …
Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of the most commonly affected genes is SCN2A. …
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
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 …
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 …
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 …
822 results