| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mary Kurian, Christian M Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R Nordli, Thomas Bas. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Developmental medicine and child neurology. vol 60. issue 1. 2017-12-27. PMID:29064093. |
focal cortical malformations in children with early infantile epilepsy and pcdh19 mutations: case report. |
2017-12-27 |
2023-08-13 |
Not clear |
| Mary Kurian, Christian M Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R Nordli, Thomas Bas. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Developmental medicine and child neurology. vol 60. issue 1. 2017-12-27. PMID:29064093. |
in this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (pcdh19). |
2017-12-27 |
2023-08-13 |
Not clear |
| Mary Kurian, Christian M Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R Nordli, Thomas Bas. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Developmental medicine and child neurology. vol 60. issue 1. 2017-12-27. PMID:29064093. |
further, pcdh19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. |
2017-12-27 |
2023-08-13 |
Not clear |
| Marina Trivisano, Chiara Lucchi, Cecilia Rustichelli, Alessandra Terracciano, Raffaella Cusmai, Grazia Maria Ubertini, Germana Giannone, Enrico Silvio Bertini, Federico Vigevano, Jozef Gecz, Giuseppe Biagini, Nicola Specchi. Reduced steroidogenesis in patients with PCDH19-female limited epilepsy. Epilepsia. vol 58. issue 6. 2017-07-13. PMID:28471529. |
patients affected by protocadherin 19 (pcdh19)-female limited epilepsy (pcdh19-fe) present a remarkable reduction in allopregnanolone blood levels. |
2017-07-13 |
2023-08-13 |
Not clear |
| Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, Suresh Somarathi, Jamie Cruden, Anita M Devlin, Alan Donaldson, Nataliya DiDonato, David Fitzpatrick, Frank J Kaiser, Anne K Lampe, Melissa M Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter Turnpenny, William P Whitehouse, Sameer M Zuber. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia. vol 58. issue 4. 2017-06-26. PMID:28166369. |
to date the only genetic epilepsy consistently associated with this phenotype is pcdh19, an x-linked disorder restricted to females, and males with mosaicism. |
2017-06-26 |
2023-08-13 |
Not clear |
| A Liu, X Xu, X Yang, Y Jiang, Z Yang, X Liu, Y Wu, X Wu, L Wei, Y Zhan. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27527380. |
the clinical spectrum of female epilepsy patients with pcdh19 mutations in a chinese population. |
2017-06-13 |
2023-08-13 |
Not clear |
| A Liu, X Xu, X Yang, Y Jiang, Z Yang, X Liu, Y Wu, X Wu, L Wei, Y Zhan. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27527380. |
we summarized the clinical spectrum of female epilepsy patients with pcdh19 mutations in a chinese population. |
2017-06-13 |
2023-08-13 |
Not clear |
| A Liu, X Xu, X Yang, Y Jiang, Z Yang, X Liu, Y Wu, X Wu, L Wei, Y Zhan. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27527380. |
our results confirmed that the clinical spectrum of pcdh19 mutations includes female ds patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers. |
2017-06-13 |
2023-08-13 |
Not clear |
| Jan Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J Helen Cross, Petia Dimova, Andras Fogarasi, Irene Graneß, Renzo Guerrini, Helle Hjalgrim, Reinhard Keimer, Christian M Korff, Gerhard Kurlemann, Steffen Leiz, Michaela Linder-Lucht, Tobias Loddenkemper, Christine Makowski, Christian Mühe, Joost Nicolai, Marina Nikanorova, Simona Pellacani, Sunny Philip, Susanne Ruf, Iván Sánchez Fernández, Kurt Schlachter, Pasquale Striano, Biayna Sukhudyan, Deyana Valcheva, R Jeroen Vermeulen, Tanja Weisbrod, Bernd Wilken, Philipp Wolf, Gerhard Kluge. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure. vol 35. 2016-12-13. PMID:26820223. |
pcdh19 mutations cause epilepsy and mental retardation limited to females (efmr) or dravet-like syndromes. |
2016-12-13 |
2023-08-13 |
Not clear |
| Semra Gürsoy, Derya Erça. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy. Journal of child neurology. vol 31. issue 4. 2016-10-31. PMID:26271793. |
to date, approximately 265 genes have been defined in epilepsy and several genes including stxbp1, arx, slc25a22, kcnq2, cdkl5, scn1a, and pcdh19 have been found to be associated with early-onset epileptic encephalopathies. |
2016-10-31 |
2023-08-13 |
Not clear |
| Alessandra Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy in two mosaic male patients. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26765483. |
using targeted next generation sequencing (ngs) approach we found a pcdh19 point mutation in two male patients with a clinical picture suggestive of pcdh19-related epilepsy. |
2016-07-28 |
2023-08-13 |
human |
| Alessandra Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy in two mosaic male patients. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26765483. |
we describe for the first time two mosaic pcdh19 point mutations in two male patients with a clinical picture suggestive of pcdh19-related epilepsy. |
2016-07-28 |
2023-08-13 |
human |
| Chuan Tan, Chloe Shard, Enzo Ranieri, Kim Hynes, Duyen H Pham, Damian Leach, Grant Buchanan, Mark Corbett, Cheryl Shoubridge, Raman Kumar, Evelyn Douglas, Lam S Nguyen, Jacinta Mcmahon, Lynette Sadleir, Nicola Specchio, Carla Marini, Renzo Guerrini, Rikke S Moller, Christel Depienne, Eric Haan, Paul Q Thomas, Samuel F Berkovic, Ingrid E Scheffer, Jozef Gec. Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human molecular genetics. vol 24. issue 18. 2016-05-31. PMID:26123493. |
protocadherin 19 (pcdh19) female limited epilepsy (pcdh19-fe; also known as epilepsy and mental retardation limited to females, efmr; mim300088) is an infantile onset epilepsy syndrome with or without intellectual disability (id) and autism. |
2016-05-31 |
2023-08-13 |
Not clear |
| G Bertani, C Spagnoli, A Iodice, G G Salerno, D Frattini, C Fusc. Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy. Seizure. vol 32. 2016-02-10. PMID:26552561. |
steroids efficacy in the acute management of seizure clusters in one case of pcdh19 female epilepsy. |
2016-02-10 |
2023-08-13 |
Not clear |
| Norimichi Higurashi, Yukitoshi Takahashi, Ayako Kashimada, Yuji Sugawara, Hiroshi Sakuma, Yuko Tomonoh, Takahito Inoue, Megumi Hoshina, Ruri Satomi, Masaharu Ohfu, Kazuya Itomi, Kyoko Takano, Tomoko Kirino, Shinichi Hiros. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. Seizure. vol 27. 2016-01-04. PMID:25891919. |
immediate suppression of seizure clusters by corticosteroids in pcdh19 female epilepsy. |
2016-01-04 |
2023-08-13 |
Not clear |
| Norimichi Higurashi, Yukitoshi Takahashi, Ayako Kashimada, Yuji Sugawara, Hiroshi Sakuma, Yuko Tomonoh, Takahito Inoue, Megumi Hoshina, Ruri Satomi, Masaharu Ohfu, Kazuya Itomi, Kyoko Takano, Tomoko Kirino, Shinichi Hiros. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. Seizure. vol 27. 2016-01-04. PMID:25891919. |
the pathomechanism and treatment of pcdh19 female epilepsy (pcdh19-fe) remain unclear. |
2016-01-04 |
2023-08-13 |
Not clear |
| Megumi Hoshina, Norimichi Higurashi, Yusaku Abe, Hiroshi Mishima, Mituaki Hosoya, Tojo Nakayama, Shinichi Hiros. [A patient with an early diagnosis of PCDH19-related epilepsy]. No to hattatsu = Brain and development. vol 47. issue 4. 2015-11-30. PMID:26353454. |
an abnormality in pcdh19 causes intractable early-onset epilepsy limited to females, and its significance in pediatric epilepsy is currently increasing. |
2015-11-30 |
2023-08-13 |
Not clear |
| Monica Gagliardi, Grazia Annesi, Michela Sesta, Patrizia Tarantino, Pasquale Conti, Angelo Labate, Gabriella Di Rosa, Aldo Quattrone, Antonio Gambardell. PCDH19 mutations in female patients from Southern Italy. Seizure. vol 24. 2015-08-31. PMID:25218114. |
mutations in pcdh19, encoding protocadherin 19 on chromosome x, cause familial epilepsy and mental retardation limited to females or dravet-like syndrome. |
2015-08-31 |
2023-08-13 |
Not clear |
| Simona Cappelletti, Nicola Specchio, Romina Moavero, Alessandra Terracciano, Marina Trivisano, Giuseppe Pontrelli, Simonetta Gentile, Federico Vigevano, Raffaella Cusma. Cognitive development in females with PCDH19 gene-related epilepsy. Epilepsy & behavior : E&B. vol 42. 2015-08-10. PMID:25499160. |
cognitive development in females with pcdh19 gene-related epilepsy. |
2015-08-10 |
2023-08-13 |
Not clear |
| Simona Cappelletti, Nicola Specchio, Romina Moavero, Alessandra Terracciano, Marina Trivisano, Giuseppe Pontrelli, Simonetta Gentile, Federico Vigevano, Raffaella Cusma. Cognitive development in females with PCDH19 gene-related epilepsy. Epilepsy & behavior : E&B. vol 42. 2015-08-10. PMID:25499160. |
mutations in the pcdh19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the scientific world. |
2015-08-10 |
2023-08-13 |
Not clear |