Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 73 to 81 of 81 entries
Sorted by: Best Match Show Resources per page
From Genetic Testing to Precision Medicine in Epilepsy.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Striano P, Minassian BA.
PMID: 31981099
Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4.

Epilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies makes management of this condition often...

Cite
Striano P, Minassian BA. From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. 2020;17(2):609-615doi: 10.1007/s13311-020-00835-4.
Striano, P., & Minassian, B. A. (2020). From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 17(2), 609-615. https://doi.org/10.1007/s13311-020-00835-4
Striano, Pasquale, and Minassian, Berge A. "From Genetic Testing to Precision Medicine in Epilepsy." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 17,2 (2020): 609-615. doi: https://doi.org/10.1007/s13311-020-00835-4
Striano P, Minassian BA. From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4. PMID: 31981099; PMCID: PMC7283411.
Copy Download .nbib Format: NLM
Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?.

Epilepsy & behavior : E&B

Shillington A, Capal JK.
PMID: 33243682
Epilepsy Behav. 2021 Jan;114:107564. doi: 10.1016/j.yebeh.2020.107564. Epub 2020 Nov 24.

OBJECTIVES: The association between autism spectrum disorder (ASD) and epilepsy is well-known. Abnormalities on electroencephalography (EEG) studies have been reported in patients with ASD without a history of seizures, and these patients have lower functional scores on adaptive measures...

Cite
Shillington A, Capal JK. Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?. Epilepsy Behav. 2020;114:107564doi: 10.1016/j.yebeh.2020.107564.
Shillington, A., & Capal, J. K. (2021). Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?. Epilepsy & behavior : E&B, 114107564. https://doi.org/10.1016/j.yebeh.2020.107564
Shillington, Amelle, and Capal, Jamie K. "Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?." Epilepsy & behavior : E&B vol. 114 (2021): 107564. doi: https://doi.org/10.1016/j.yebeh.2020.107564
Shillington A, Capal JK. Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?. Epilepsy Behav. 2021 Jan;114:107564. doi: 10.1016/j.yebeh.2020.107564. Epub 2020 Nov 24. PMID: 33243682.
Copy Download .nbib Format: NLM
Using conceptual modeling to improve genome data management.

Briefings in bioinformatics

Pastor Ó, León AP, Reyes JFR, García AS, Casamayor JCR.
PMID: 32533135
Brief Bioinform. 2021 Jan 18;22(1):45-54. doi: 10.1093/bib/bbaa100.

With advances in genomic sequencing technology, a large amount of data is publicly available for the research community to extract meaningful and reliable associations among risk genes and the mechanisms of disease. However, this exponential growth of data is...

Cite
Pastor Ó, León AP, Reyes JFR, et al. Using conceptual modeling to improve genome data management. Brief Bioinform. 2021;22(1):45-54doi: 10.1093/bib/bbaa100.
Pastor, �. �., León, A. P., Reyes, J. F. R., García, A. S., & Casamayor, J. C. R. (2021). Using conceptual modeling to improve genome data management. Briefings in bioinformatics, 22(1), 45-54. https://doi.org/10.1093/bib/bbaa100
Pastor, Óscar, et al. "Using conceptual modeling to improve genome data management." Briefings in bioinformatics vol. 22,1 (2021): 45-54. doi: https://doi.org/10.1093/bib/bbaa100
Pastor Ó, León AP, Reyes JFR, García AS, Casamayor JCR. Using conceptual modeling to improve genome data management. Brief Bioinform. 2021 Jan 18;22(1):45-54. doi: 10.1093/bib/bbaa100. PMID: 32533135.
Copy Download .nbib Format: NLM
Genetic analysis of genes associated with epilepsy.

Acta bio-medica : Atenei Parmensis

Guerri G, Castori M, D'Agruma L, Petracca A, Kurti D, Bertelli M.
PMID: 33170158
Acta Biomed. 2020 Nov 09;91(13):e2020005. doi: 10.23750/abm.v91i13-S.10596.

BACKGROUND AND AIM: Epilepsy is a neurological disorder in which the altered activity of neurons causes convulsions, periods of unusual behavior and, sometimes, loss of consciousness. The aim of this mini-review is to summarize all the syndromes characterized by...

Cite
Guerri G, Castori M, D'Agruma L, et al. Genetic analysis of genes associated with epilepsy. Acta Biomed. 2020;91(13):e2020005doi: 10.23750/abm.v91i13-S.10596.
Guerri, G., Castori, M., D'Agruma, L., Petracca, A., Kurti, D., & Bertelli, M. (2020). Genetic analysis of genes associated with epilepsy. Acta bio-medica : Atenei Parmensis, 91(13), e2020005. https://doi.org/10.23750/abm.v91i13-S.10596
Guerri, Giulia, et al. "Genetic analysis of genes associated with epilepsy." Acta bio-medica : Atenei Parmensis vol. 91,13 (2020): e2020005. doi: https://doi.org/10.23750/abm.v91i13-S.10596
Guerri G, Castori M, D'Agruma L, Petracca A, Kurti D, Bertelli M. Genetic analysis of genes associated with epilepsy. Acta Biomed. 2020 Nov 09;91(13):e2020005. doi: 10.23750/abm.v91i13-S.10596. PMID: 33170158; PMCID: PMC8023140.
Copy Download .nbib Format: NLM
Genetic Testing in Epilepsy.

Seminars in neurology

Ritter DM, Holland K.
PMID: 33176374
Semin Neurol. 2020 Dec;40(6):730-738. doi: 10.1055/s-0040-1719070. Epub 2020 Nov 11.

Because of next-generation sequencing and the discovery of many new causative genes, genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in epilepsy cause a variety of changes that can be broadly classified into syndromic disorders (i.e.,...

Cite
Ritter DM, Holland K. Genetic Testing in Epilepsy. Semin Neurol. 2020;40(6):730-738doi: 10.1055/s-0040-1719070.
Ritter, D. M., & Holland, K. (2020). Genetic Testing in Epilepsy. Seminars in neurology, 40(6), 730-738. https://doi.org/10.1055/s-0040-1719070
Ritter, David M, and Holland, Katherine. "Genetic Testing in Epilepsy." Seminars in neurology vol. 40,6 (2020): 730-738. doi: https://doi.org/10.1055/s-0040-1719070
Ritter DM, Holland K. Genetic Testing in Epilepsy. Semin Neurol. 2020 Dec;40(6):730-738. doi: 10.1055/s-0040-1719070. Epub 2020 Nov 11. PMID: 33176374.
Copy Download .nbib Format: NLM
The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study.

Seizure

Wei Z, Liu C, Wu Z, Cao M, Qiao X, Han T, Zhang Y, Liu Y, Deng Y.
PMID: 34098317
Seizure. 2021 Oct;91:52-59. doi: 10.1016/j.seizure.2021.05.019. Epub 2021 May 28.

OBJECTIVE: CACNA1H is regarded as a gene conferring susceptibility to generalised epilepsy. However, the prognosis of epilepsy patients carrying the CACNA1H missense variants of uncertain significance (VUS) is unknown. A prospective cohort was generated to determine the deleterious effects...

Cite
Wei Z, Liu C, Wu Z, et al. The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. Seizure. 2021;91:52-59doi: 10.1016/j.seizure.2021.05.019.
Wei, Z., Liu, C., Wu, Z., Cao, M., Qiao, X., Han, T., Zhang, Y., Liu, Y., & Deng, Y. (2021). The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. Seizure, 9152-59. https://doi.org/10.1016/j.seizure.2021.05.019
Wei, Zihan, et al. "The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study." Seizure vol. 91 (2021): 52-59. doi: https://doi.org/10.1016/j.seizure.2021.05.019
Wei Z, Liu C, Wu Z, Cao M, Qiao X, Han T, Zhang Y, Liu Y, Deng Y. The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. Seizure. 2021 Oct;91:52-59. doi: 10.1016/j.seizure.2021.05.019. Epub 2021 May 28. PMID: 34098317.
Copy Download .nbib Format: NLM
Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels.

Epilepsia

Helbig I.
PMID: 29676783
Epilepsia. 2018 May;59(5):1072-1073. doi: 10.1111/epi.14075. Epub 2018 Apr 20.

No abstract available.

Cite
Helbig I. Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels. Epilepsia. 2018;59(5):1072-1073doi: 10.1111/epi.14075.
Helbig, I. (2018). Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels. Epilepsia, 59(5), 1072-1073. https://doi.org/10.1111/epi.14075
Helbig, Ingo. "Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels." Epilepsia vol. 59,5 (2018): 1072-1073. doi: https://doi.org/10.1111/epi.14075
Helbig I. Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels. Epilepsia. 2018 May;59(5):1072-1073. doi: 10.1111/epi.14075. Epub 2018 Apr 20. PMID: 29676783.
Copy Download .nbib Format: NLM
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Epilepsia

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.
PMID: 30341947
Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.

OBJECTIVE: Increasing availability of surgically resected brain tissue from patients with focal epilepsy and focal cortical dysplasia or low-grade glioneuronal tumors has fostered large-scale genetic examination. However, assessment of pathogenicity of germ line and somatic variants remains difficult. Here,...

Cite
Niestroj LM, Du J, Nothnagel M, et al. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018;59(11):2145-2152doi: 10.1111/epi.14579.
Niestroj, L. M., Du, J., Nothnagel, M., May, P., Palotie, A., Daly, M. J., Nürnberg, P., Blümcke, I., & Lal, D. (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59(11), 2145-2152. https://doi.org/10.1111/epi.14579
Niestroj, Lisa-Marie, et al. "Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies." Epilepsia vol. 59,11 (2018): 2145-2152. doi: https://doi.org/10.1111/epi.14579
Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20. PMID: 30341947.
Copy Download .nbib Format: NLM
SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis.

Epilepsy research

Zhi H, Wu C, Yang Z.
PMID: 29605548
Epilepsy Res. 2018 May;142:81-87. doi: 10.1016/j.eplepsyres.2018.03.016. Epub 2018 Mar 26.

To clarify the association between SCN1A rs3812718 polymorphism and epilepsy, we performed an updated meta-analysis. PubMed, Science Direct, Embase, Springer, Google Scholar, and Cochrane databases were searched before January 20, 2018. Odds ratios and 95% confidence intervals were used...

Cite
Zhi H, Wu C, Yang Z. SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy Res. 2018;142:81-87doi: 10.1016/j.eplepsyres.2018.03.016.
Zhi, H., Wu, C., & Yang, Z. (2018). SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy research, 14281-87. https://doi.org/10.1016/j.eplepsyres.2018.03.016
Zhi, Haiyang, et al. "SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis." Epilepsy research vol. 142 (2018): 81-87. doi: https://doi.org/10.1016/j.eplepsyres.2018.03.016
Zhi H, Wu C, Yang Z. SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy Res. 2018 May;142:81-87. doi: 10.1016/j.eplepsyres.2018.03.016. Epub 2018 Mar 26. PMID: 29605548.
Copy Download .nbib Format: NLM
Showing 73 to 81 of 81 entries