All Relations between Epilepsy and pcdh19

Publication Sentence Publish Date Extraction Date Species
Kristy L Kolc, Rikke S Møller, Lynette G Sadleir, Ingrid E Scheffer, Raman Kumar, Jozef Gec. PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. Advances in experimental medicine and biology. vol 1298. 2020-11-04. PMID:32852734. with these insights into the male phenotypic spectrum of pcdh19 epilepsy, we propose the new term clustering epilepsy (ce). 2020-11-04 2023-08-13 Not clear
Lynette G Sadleir, Kristy L Kolc, Chontelle King, Heather C Mefford, Russell C Dale, Jozef Gecz, Ingrid E Scheffe. Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 24. 2020-07-22. PMID:31928905. levetiracetam efficacy in pcdh19 girls clustering epilepsy. 2020-07-22 2023-08-13 Not clear
Lynette G Sadleir, Kristy L Kolc, Chontelle King, Heather C Mefford, Russell C Dale, Jozef Gecz, Ingrid E Scheffe. Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 24. 2020-07-22. PMID:31928905. pcdh19 girls clustering epilepsy (gce) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. 2020-07-22 2023-08-13 Not clear
Li Yang, Jing Liu, Quanping Su, Yufen Li, Xiaofan Yang, Liyun Xu, Lili Tong, Baomin L. Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy. Brain and behavior. vol 9. issue 12. 2020-06-16. PMID:31714027. novel and de novo mutation of pcdh19 in girls clustering epilepsy. 2020-06-16 2023-08-13 Not clear
Li Yang, Jing Liu, Quanping Su, Yufen Li, Xiaofan Yang, Liyun Xu, Lili Tong, Baomin L. Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy. Brain and behavior. vol 9. issue 12. 2020-06-16. PMID:31714027. pcdh19 has become the second most relevant gene in epilepsy after scn1a. 2020-06-16 2023-08-13 Not clear
E L Dadali, I A Mishina, A O Borovikov, A A Sharkov, I V Kanivet. [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 120. issue 1. 2020-06-12. PMID:32105270. [clinical and genetic characteristics of epilepsy caused by mutations in the pcdh19 gene (omim: 300088)]. 2020-06-12 2023-08-13 Not clear
Jisoo Lim, Jiin Ryu, Shinwon Kang, Hyun Jong Noh, Chul Hoon Ki. Autism-like behaviors in male mice with a Pcdh19 deletion. Molecular brain. vol 12. issue 1. 2020-06-08. PMID:31747920. mutations in protocadherin 19 (pcdh19), which is on the x-chromosome, cause the brain disease epilepsy in females with mental retardation (efmr). 2020-06-08 2023-08-13 mouse
Jisoo Lim, Jiin Ryu, Shinwon Kang, Hyun Jong Noh, Chul Hoon Ki. Autism-like behaviors in male mice with a Pcdh19 deletion. Molecular brain. vol 12. issue 1. 2020-06-08. PMID:31747920. in mice and humans, epilepsy occurs only in heterozygous females who have a mixture of pcdh19 wild-type (wt) and mutant cells caused by random x-inactivation; it does not occur in hemizygous pcdh19 mutant males. 2020-06-08 2023-08-13 mouse
Danique R M Vlaskamp, Anne S Bassett, Joseph E Sullivan, Jennifer Robblee, Lynette G Sadleir, Ingrid E Scheffer, Danielle M Andrad. Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. Epilepsia. vol 60. issue 3. 2020-04-14. PMID:30828795. schizophrenia is a later-onset feature of pcdh19 girls clustering epilepsy. 2020-04-14 2023-08-13 Not clear
Rojeen Niazi, Elizabeth A Fanning, Christel Depienne, Mahdi Sarmady, Ahmad N Abou Tayou. A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern. Human mutation. vol 40. issue 3. 2020-03-23. PMID:30582250. a mutation update for the pcdh19 gene causing early-onset epilepsy in females with an unusual expression pattern. 2020-03-23 2023-08-13 Not clear
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark A Corbett, Ernst Wolvetang, Paul Q Thomas, Lachlan A Jolly, Jozef Gec. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. Neurobiology of disease. vol 116. 2019-09-06. PMID:29763708. pcdh19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to pcdh19 girls clustering epilepsy. 2019-09-06 2023-08-13 mouse
Blair Ortiz, Yesyka Jaramillo, Christian Roja. X-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy Biomedica : revista del Instituto Nacional de Salud. vol 38. issue 4. 2019-08-22. PMID:30653859. x-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy epilepsy and mental retardation produced by mutations in gene pcdh19 (protocadherin 19) is an x-linked syndrome restricted to females. 2019-08-22 2023-08-13 Not clear
Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thoma. Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. Neuron. vol 97. issue 1. 2019-07-05. PMID:29301106. abnormal cell sorting underlies the unique x-linked inheritance of pcdh19 epilepsy. 2019-07-05 2023-08-13 mouse
Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thoma. Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. Neuron. vol 97. issue 1. 2019-07-05. PMID:29301106. in contrast, protocadherin 19 (pcdh19) mutations cause epilepsy in heterozygous females but spare hemizygous males. 2019-07-05 2023-08-13 mouse
Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thoma. Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. Neuron. vol 97. issue 1. 2019-07-05. PMID:29301106. furthermore, we identify variable cortical malformations in pcdh19 epilepsy patients. 2019-07-05 2023-08-13 mouse
Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thoma. Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. Neuron. vol 97. issue 1. 2019-07-05. PMID:29301106. our results highlight the role of pcdh19 in determining cell adhesion affinities during cortical development and the way segregation of wt and null pcdh19 cells is associated with the unique x-linked inheritance of pcdh19 epilepsy. 2019-07-05 2023-08-13 mouse
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. pcdh19-related epilepsy in a male with klinefelter syndrome: additional evidence supporting pcdh19 cellular interference disease mechanism. 2019-04-05 2023-08-13 Not clear
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. pcdh19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females. 2019-04-05 2023-08-13 Not clear
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. consequently, pcdh19-related epilepsies are inherited in an atypical x-linked pattern, such that hemizygous, non-mosaic, 46,xy males are typically unaffected, while individuals with a disease-causing pcdh19 variant, mainly heterozygous females and mosaic males, are affected. 2019-04-05 2023-08-13 Not clear
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. as a corollary to this hypothesis, an individual with klinefelter syndrome (ks) (47,xxy) who has a heterozygous disease-causing pcdh19 variant should develop pcdh19-related epilepsy. 2019-04-05 2023-08-13 Not clear