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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 g …
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizu …
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 in heterozygous femal …
PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behav …
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
Borghi R, Magliocca V, Trivisano M, Specchio N, Tartaglia M, Bertini E, Compagnucci C. Borghi R, et al. Int J Mol Sci. 2022 Mar 23;23(7):3506. doi: 10.3390/ijms23073506. Int J Mol Sci. 2022. PMID: 35408865 Free PMC article. Review.
PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability …
PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from …
The role of PCDH19 in refractory status epilepticus.
Trivisano M, Specchio N. Trivisano M, et al. Epilepsy Behav. 2019 Dec;101(Pt B):106539. doi: 10.1016/j.yebeh.2019.106539. Epub 2019 Oct 31. Epilepsy Behav. 2019. PMID: 31678000 Review.
PCDH19-Girls Clustering Epilepsy (GCE) is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. ...An overall number of 59 full-text articles were selecte …
PCDH19-Girls Clustering Epilepsy (GCE) is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced se …
Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome.
Moncayo JA, Vargas MN, Castillo I, Granda PV, Duque AM, Argudo JM, Matcheswalla S, Lopez Dominguez GE, Monteros G, Andrade AF, Ojeda D, Yepez M. Moncayo JA, et al. Cureus. 2022 Jul 22;14(7):e27154. doi: 10.7759/cureus.27154. eCollection 2022 Jul. Cureus. 2022. PMID: 36004035 Free PMC article. Review.
Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. ...Stiripentol was given as adjuvant therapy in a patient with PCDH …
Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutat …
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 mutations were also identified in epileptic females without cognitive impairment. ...Here, we present a review of the published mutations in the PCDH19 gene to date and report on new mutations. PCDH19 has become the second most relevant gene in epileps …
PCDH19 mutations were also identified in epileptic females without cognitive impairment. ...Here, we present a review of the publishe …
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.
However, males with postzygotic somatic mutation in PCDH19 are affected and clinically similar to the affected females. PCDH19-CE is a disorder of cellular mosaicism. The coexistence of two different, but otherwise 'normal' cells in a PCDH19-CE individual, th …
However, males with postzygotic somatic mutation in PCDH19 are affected and clinically similar to the affected females. PCDH19 …
Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology.
Moncayo JA, Ayala IN, Argudo JM, Aguirre AS, Parwani J, Pachano A, Ojeda D, Cordova S, Mora MG, Tapia CM, Ortiz JF. Moncayo JA, et al. Cureus. 2022 Jun 10;14(6):e25808. doi: 10.7759/cureus.25808. eCollection 2022 Jun. Cureus. 2022. PMID: 35822151 Free PMC article. Review.
PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. ...We found four main theories for the pathophysiology of PCDH19-related epilepsy: GABA(A)(R) dysregula …
PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein imp …
Modifying PCDH19 levels affects cortical interneuron migration.
Pancho A, Mitsogiannis MD, Aerts T, Dalla Vecchia M, Ebert LK, Geenen L, Noterdaeme L, Vanlaer R, Stulens A, Hulpiau P, Staes K, Van Roy F, Dedecker P, Schermer B, Seuntjens E. Pancho A, et al. Front Neurosci. 2022 Oct 25;16:887478. doi: 10.3389/fnins.2022.887478. eCollection 2022. Front Neurosci. 2022. PMID: 36389226 Free PMC article.
PCDH19 is a transmembrane protein and member of the protocadherin family. It is encoded by the X-chromosome and more than 200 mutations have been linked to the neurodevelopmental PCDH-clustering epilepsy (PCDH19-CE) syndrome. ...We also detect subtle defects when …
PCDH19 is a transmembrane protein and member of the protocadherin family. It is encoded by the X-chromosome and more than 200 mutatio …
PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
Chouery E, Makhlouf J, Daoud Khatoun W, Mehawej C, Megarbane A. Chouery E, et al. Genes (Basel). 2023 Feb 27;14(3):598. doi: 10.3390/genes14030598. Genes (Basel). 2023. PMID: 36980870 Free PMC article.
PCDH19, located on chromosome X, encodes a membrane glycoprotein belonging to the protocadherin family. ...CONCLUSION: Here, we report hemizygous PCDH19 variants in two males with autism without epilepsy. Reporting further PCDH19 variants in male patients wit …
PCDH19, located on chromosome X, encodes a membrane glycoprotein belonging to the protocadherin family. ...CONCLUSION: Here, we repor …
284 results

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