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PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D. Samanta D. Pediatr Neurol. 2020 Apr;105:3-9. doi: 10.1016/j.pediatrneurol.2019.10.009. Epub 2019 Nov 30. Pediatr Neurol. 2020. PMID: 32057594 Review.
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. .
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.
Gecz J, Thomas PQ. Gecz J, et al. Curr Opin Genet Dev. 2020 Dec;65:169-175. doi: 10.1016/j.gde.2020.06.012. Epub 2020 Jul 26. Curr Opin Genet Dev. 2020. PMID: 32726744 Review.
PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. ...PCDH19-CE is a disorder of cellular mosaicism. The coexistence of two different, but otherwise 'normal' cells in a PCDH19
PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritan
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
Sadleir LG, Kolc KL, King C, Mefford HC, Dale RC, Gecz J, Scheffer IE. Sadleir LG, et al. Eur J Paediatr Neurol. 2020 Jan;24:142-147. doi: 10.1016/j.ejpn.2019.12.020. Epub 2020 Jan 3. Eur J Paediatr Neurol. 2020. PMID: 31928905
BACKGROUND: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. ...Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. METHODS …
BACKGROUND: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encepha …
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C, LeGuern E. Depienne C, et al. Hum Mutat. 2012 Apr;33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14. Hum Mutat. 2012. PMID: 22267240 Free article. Review.
Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of inheritance as only heterozygous females are affected, whereas hemizygous males are asymptomatic. ...Here, we p …
Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial diso …
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A. Smith L, et al. Epilepsia. 2018 Mar;59(3):679-689. doi: 10.1111/epi.14003. Epub 2018 Jan 28. Epilepsia. 2018. PMID: 29377098 Free PMC article.
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." ...Whereas the majority of individuals had ID, we highlight the possibility of average intellect in the setting of PCDH19-related …
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy
Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder.
Hoshina N, Johnson-Venkatesh EM, Hoshina M, Umemori H. Hoshina N, et al. Science. 2021 Apr 16;372(6539):eaaz3893. doi: 10.1126/science.aaz3893. Science. 2021. PMID: 33859005
The PCDH19 gene is on the X-chromosome. Unlike most X-linked disorders, PCDH19 mutations affect heterozygous females (PCDH19(HET) ) but not hemizygous males (PCDH19(HEMI) ); however, the reason why remains to be elucidated. ...Pcdh19(HET) but no …
The PCDH19 gene is on the X-chromosome. Unlike most X-linked disorders, PCDH19 mutations affect heterozygous females (PCDH1
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M, Ishii A, Goto A, Hirose S. Shibata M, et al. J Hum Genet. 2021 Jun;66(6):569-578. doi: 10.1038/s10038-020-00880-z. Epub 2020 Dec 2. J Hum Genet. 2021. PMID: 33262389 Free PMC article.
Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy
Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to …
[Clinical characteristics of PCDH19-female limited epilepsy].
Chen Y, Yang XL, Liu AJ, Sun D, Yang Y, Zhang J, Chen JY, Yang ZX, Jiang YW, Wu XR, Zhang YH. Chen Y, et al. Zhonghua Er Ke Za Zhi. 2019 Nov 2;57(11):857-862. doi: 10.3760/cma.j.issn.0578-1310.2019.11.008. Zhonghua Er Ke Za Zhi. 2019. PMID: 31665840 Chinese.
Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, P …
Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods …
The Epilepsy-Related Protein PCDH19 Regulates Tonic Inhibition, GABAAR Kinetics, and the Intrinsic Excitability of Hippocampal Neurons.
Serratto GM, Pizzi E, Murru L, Mazzoleni S, Pelucchi S, Marcello E, Mazzanti M, Passafaro M, Bassani S. Serratto GM, et al. Mol Neurobiol. 2020 Dec;57(12):5336-5351. doi: 10.1007/s12035-020-02099-7. Epub 2020 Sep 3. Mol Neurobiol. 2020. PMID: 32880860 Free PMC article.
PCDH19 encodes for protocadherin-19 (PCDH19), a cell-adhesion molecule of the cadherin superfamily preferentially expressed in the brain. ...These findings establish PCDH19 as a critical determinant of GABA(A)R-mediated tonic transmission and GABA(A)Rs gating
PCDH19 encodes for protocadherin-19 (PCDH19), a cell-adhesion molecule of the cadherin superfamily preferentially expressed in
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B. Liu J, et al. Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5. Mol Brain. 2018. PMID: 30185235 Free PMC article.
Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. ...TSC1/TSC2 variants were found in 60% patients with tuberous sclerosis complex patients. Other novel mutations detected in unclassified epilepsy patients involve the SCN …
Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. ...TSC1/TSC2 variants were found in 60 …
171 results