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SCN8A mutation in a child presenting with seizures and developmental delays.
Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. Malcolmson J, et al. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073. doi: 10.1101/mcs.a001073. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900360 Free PMC article.
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was …
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with earl …
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC. Kim HJ, et al. Epilepsy Res. 2019 Dec;158:106222. doi: 10.1016/j.eplepsyres.2019.106222. Epub 2019 Oct 22. Epilepsy Res. 2019. PMID: 31675620
All patients showed developmental delay or regression. Severe hypotonia or ataxia was also presented in some patients. Microcephaly was also characteristic. ...CONCLUSION: SCN8A developmental and epileptic encephalopathy presents intracta …
All patients showed developmental delay or regression. Severe hypotonia or ataxia was also presented in some patients. …
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort.
Encinas AC, Moore IKM, Watkins JC, Hammer MF. Encinas AC, et al. Epilepsia. 2019 Aug;60(8):1711-1720. doi: 10.1111/epi.16288. Epub 2019 Jul 23. Epilepsia. 2019. PMID: 31335965
Participants provided information on the history of their child's seizures, medications, comorbidities, and developmental skills based on the Denver II items. ...Ages at seizure onset ranged from birth to >12 months of age (mean ± SD = 5 mont …
Participants provided information on the history of their child's seizures, medications, comorbidities, and developm
A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.
Zaman T, Abou Tayoun A, Goldberg EM. Zaman T, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1445-1455. doi: 10.1002/acn3.50839. Epub 2019 Jul 23. Ann Clin Transl Neurol. 2019. PMID: 31402610 Free PMC article.
RESULTS: We observed a range in age of onset and severity of epilepsy and associated developmental delay/intellectual disability. ...INTERPRETATION: We present a comprehensive single-center dataset for SCN8A epilepsy that includes clinical, genetic, el …
RESULTS: We observed a range in age of onset and severity of epilepsy and associated developmental delay/intellectual disabili …
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.
Helbig I, Tayoun AA. Helbig I, et al. Mol Syndromol. 2016 Sep;7(4):172-181. doi: 10.1159/000448530. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781027 Free PMC article. Review.
Often, epileptic encephalopathies start in childhood and are accompanied by developmental delay and various neurological and non-neurological comorbidities. ...While most patients carry mutations in SCN1A, similar phenotypes can be seen in patients with mu
Often, epileptic encephalopathies start in childhood and are accompanied by developmental delay and various neurological and n …
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. Butler KM, et al. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6. Epilepsy Res. 2017. PMID: 27875746 Free PMC article.
Four of the individuals have epilepsy and developmental delay/intellectual disability. The remaining individual has a milder epilepsy presentation without cognitive impairment. ...CONCLUSIONS: Variants in SCN8A may be responsible for a spectrum of epil …
Four of the individuals have epilepsy and developmental delay/intellectual disability. The remaining individual has a milder e …
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