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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. ...With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that p …
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. ...With the use of whole-exome sequencing, a de novo missens …
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
Seizure types were diverse and predominantly involved focal seizures or spasms. ...CONCLUSION: SCN8A developmental and epileptic encephalopathy presents intractable seizures including spasms, focal seizures, neonatal status epilept
Seizure types were diverse and predominantly involved focal seizures or spasms. ...CONCLUSION: SCN8A developmental
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. Na+ channel blockers were highly or partially effective in most patients. ...For variants not previously reported, functional studies en …
RESULTS: We observed a range in age of onset and severity of epilepsy and associated developmental delay/intellectual disabili …
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
METHODS: We analyzed patient data (n = 91) submitted to an online registry tailored to characteristics of children with SCN8A variants. Participants provided information on the history of their child's seizures, medications, comorbidities, and …
METHODS: We analyzed patient data (n = 91) submitted to an online registry tailored to characteristics of children with SCN8A
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. ...Furthermore, patients with different genetic etiologies can have seemingly similar clinical presentatio
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. ...These clusters are primarily located in regions of the channel that are importa …
Four of the individuals have epilepsy and developmental delay/intellectual disability. The remaining individual has a milder e …
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium, Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
Here, we describe two sibling pairs and three unrelated males who presented in infancy with intractable focal seizures and severe developmental delay. ...Our findings demonstrate that FHF2 variants are a cause of infantile-onset developmental an …
Here, we describe two sibling pairs and three unrelated males who presented in infancy with intractable focal seizures and sev …
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. Cabasson S, et al. Eur J Paediatr Neurol. 2020 Sep;28:214-220. doi: 10.1016/j.ejpn.2020.06.002. Epub 2020 Jun 28. Eur J Paediatr Neurol. 2020. PMID: 32694024
In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. ...Interictal EEG may be normal at the onset of epilepsy, but abnormalities in electroencephalographic …
In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accu …