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Page 1
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 …
PCDH19-clustering epilepsy, pathophysiology and clinical significance.
Kowkabi S, Yavarian M, Kaboodkhani R, Mohammadi M, Shervin Badv R. Kowkabi S, et al. Epilepsy Behav. 2024 May;154:109730. doi: 10.1016/j.yebeh.2024.109730. Epub 2024 Mar 22. Epilepsy Behav. 2024. PMID: 38521028 Review.
PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy …
PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability …
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. ...However, males with postzygotic somatic mutation in PCDH19 are affected and clinically similar to the affected females. PCD …
PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritan …
[Epilepsy with PCDH19 mutation: polypharmacy as a consequence of the complexity and diversity of pathogenesis mechanisms].
Sokolov PL, Chebanenko NV, Mednaya DM, Fedotova YA. Sokolov PL, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(7):51-55. doi: 10.17116/jnevro202412407151. Zh Nevrol Psikhiatr Im S S Korsakova. 2024. PMID: 39113443 Review. Russian.
Mutations in the human PCDH19 gene lead to epileptic encephalopathy of early childhood. It is characterized by the early onset of serial seizures, cognitive impairment and behavioral disorders (including autistic personality traits). ...A "side branch" of these pathogeneti …
Mutations in the human PCDH19 gene lead to epileptic encephalopathy of early childhood. It is characterized by the early onset of ser …
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
Gerosa L, Mazzoleni S, Rusconi F, Longaretti A, Lewerissa E, Pelucchi S, Murru L, Giannelli SG, Broccoli V, Marcello E, Kasri NN, Battaglioli E, Passafaro M, Bassani S. Gerosa L, et al. Cell Rep. 2022 May 24;39(8):110857. doi: 10.1016/j.celrep.2022.110857. Cell Rep. 2022. PMID: 35613587 Free PMC article.
Protocadherin-19 (PCDH19) is a synaptic cell-adhesion molecule encoded by X-linked PCDH19, a gene linked with epilepsy. Here, we report a synapse-to-nucleus signaling pathway through which PCDH19 bridges neuronal activity with gene expression. In parti …
Protocadherin-19 (PCDH19) is a synaptic cell-adhesion molecule encoded by X-linked PCDH19, a gene linked with epilepsy. …
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
Alaverdian D, Corradi AM, Sterlini B, Benfenati F, Murru L, Passafaro M, Brunetti J, Meloni I, Mari F, Renieri A, Frullanti E. Alaverdian D, et al. Epileptic Disord. 2023 Jun;25(3):371-382. doi: 10.1002/epd2.20065. Epub 2023 May 4. Epileptic Disord. 2023. PMID: 37186408
BACKGROUND: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. ...PCDH19 mosaic neurons showed elevated excitability, representing the situation in …
BACKGROUND: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with in …
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.
Chen Y, Yang X, Chen J, Yang X, Yang Y, Liu A, Zhang X, Wu W, Sun D, Yang Z, Jiang Y, Zhang Y. Chen Y, et al. Front Neurol. 2022 Nov 3;13:1041509. doi: 10.3389/fneur.2022.1041509. eCollection 2022. Front Neurol. 2022. PMID: 36408521 Free PMC article.
OBJECTIVE: To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity. ...Additional 20 mosaic male patients wi …
OBJECTIVE: To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and …
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 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 …
Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy.
Simmons R, Singhal N, Sullivan J, Shih T, Tihan T, Poduri A, Smith L, Yang E. Simmons R, et al. Epilepsy Behav. 2023 Dec;149:109517. doi: 10.1016/j.yebeh.2023.109517. Epub 2023 Nov 12. Epilepsy Behav. 2023. PMID: 37956604 Free article.
PCDH19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. ...All three patients ultimately underwent temporal lobectomy, resulting in seizure freedom. These findings suggest epilepsy surgery can be an effective …
PCDH19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. ...All three patien …
241 results