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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." METHODS: We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neuro …
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy
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
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291 Free article. Clinical Trial.
OBJECTIVE: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. ...METHODS: We retrospectively collected genetic, clini …
OBJECTIVE: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced …
[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 …
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. Pederick DT, et al. Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. Neuron. 2018. PMID: 29301106 Free article.
Complete deletion of PCDH19 in heterozygous mice abolishes abnormal cell sorting and restores normal network activity. Furthermore, we identify variable cortical malformations in PCDH19 epilepsy patients. Our results highlight the role of PCDH19 in det …
Complete deletion of PCDH19 in heterozygous mice abolishes abnormal cell sorting and restores normal network activity. Furthermore, w …
The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.
Bassani S, Cwetsch AW, Gerosa L, Serratto GM, Folci A, Hall IF, Mazzanti M, Cancedda L, Passafaro M. Bassani S, et al. Hum Mol Genet. 2018 Mar 15;27(6):1027-1038. doi: 10.1093/hmg/ddy019. Hum Mol Genet. 2018. PMID: 29360992 Free PMC article.
The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopmental pathology characterized by female-limited epilepsy, cognitive impairment and autistic features, the pathogenic mechanisms of which …
The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopment …
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R, Fanning EA, Depienne C, Sarmady M, Abou Tayoun AN. Niazi R, et al. Hum Mutat. 2019 Mar;40(3):243-257. doi: 10.1002/humu.23701. Epub 2019 Jan 10. Hum Mutat. 2019. PMID: 30582250 Review.
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. ...PCDH19-related disorder is known to cause early-onset epilepsy in females characterized by seizure clusters e …
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain …
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
Yang L, Liu J, Su Q, Li Y, Yang X, Xu L, Tong L, Li B. Yang L, et al. Brain Behav. 2019 Dec;9(12):e01455. doi: 10.1002/brb3.1455. Epub 2019 Nov 12. Brain Behav. 2019. PMID: 31714027 Free PMC article.
BACKGROUND: PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. METHODS: We screened 152 children with fever-sensitive epilepsy for gene detection. ...And our report expands the mutation spectrum of PC
BACKGROUND: PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. METHODS …
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.
PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singula
PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCD
PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Romasko EJ, DeChene ET, Balciuniene J, Akgumus GT, Helbig I, Tarpinian JM, Keena BA, Vogiatzi MG, Zackai EH, Izumi K, Massey SL, Tayoun ANA. Romasko EJ, et al. Epilepsy Res. 2018 Sep;145:89-92. doi: 10.1016/j.eplepsyres.2018.06.008. Epub 2018 Jun 18. Epilepsy Res. 2018. PMID: 29933145
PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females. ...Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporti
PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almos
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