| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
the purpose of our study was to describe the cognitive development in 11 girls with a de novo mutation in pcdh19 and early-onset epilepsy. |
2015-08-10 |
2023-08-13 |
Not clear |
| Kinga Duszyc, Iwona Terczynska, Dorota Hoffman-Zacharsk. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. Journal of applied genetics. vol 56. issue 1. 2015-06-01. PMID:25204757. |
therefore, the pcdh19 gene is now estimated to be the second, after scn1a, most clinically relevant gene in epilepsy. |
2015-06-01 |
2023-08-13 |
Not clear |
| Julie Walters, Karin Wells-Kilpatrick, Trista Pandeleo. My epilepsy story--PCDH19 alliance. Epilepsia. vol 55. issue 7. 2014-09-22. PMID:24592826. |
my epilepsy story--pcdh19 alliance. |
2014-09-22 |
2023-08-12 |
Not clear |
| Norimichi Higurashi, Mai Nakamura, Misaki Sugai, Masaharu Ohfu, Masako Sakauchi, Yuji Sugawara, Kazuyuki Nakamura, Mitsuhiro Kato, Daisuke Usui, Yukiko Mogami, Yumi Fujiwara, Tomoshiro Ito, Hiroko Ikeda, Katsumi Imai, Yukitoshi Takahashi, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Tomoko Kirino, Yuko Tomonoh, Takahito Inoue, Kyoko Takano, Shuichi Shimakawa, Shinichi Hiros. PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. Epilepsy research. vol 106. issue 1-2. 2014-03-19. PMID:23712037. |
abnormalities in the protocadherin 19 (pcdh19) gene cause early-onset epilepsy exclusively in females. |
2014-03-19 |
2023-08-12 |
Not clear |
| Norimichi Higurashi, Mai Nakamura, Misaki Sugai, Masaharu Ohfu, Masako Sakauchi, Yuji Sugawara, Kazuyuki Nakamura, Mitsuhiro Kato, Daisuke Usui, Yukiko Mogami, Yumi Fujiwara, Tomoshiro Ito, Hiroko Ikeda, Katsumi Imai, Yukitoshi Takahashi, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Tomoko Kirino, Yuko Tomonoh, Takahito Inoue, Kyoko Takano, Shuichi Shimakawa, Shinichi Hiros. PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. Epilepsy research. vol 106. issue 1-2. 2014-03-19. PMID:23712037. |
pcdh19 was analyzed in 159 japanese female patients with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification (mlpa) analysis. |
2014-03-19 |
2023-08-12 |
Not clear |
| J J T van Harssel, S Weckhuysen, M J A van Kempen, K Hardies, N E Verbeek, C G F de Kovel, W B Gunning, E van Daalen, M V de Jonge, A C Jansen, R J Vermeulen, W F M Arts, H Verhelst, A Fogarasi, J F de Rijk-van Andel, A Kelemen, D Lindhout, P De Jonghe, B P C Koeleman, A Suls, E H Brilstr. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. Neurogenetics. vol 14. issue 1. 2013-08-05. PMID:23334464. |
clinical and genetic aspects of pcdh19-related epilepsy syndromes and the possible role of pcdh19 mutations in males with autism spectrum disorders. |
2013-08-05 |
2023-08-12 |
Not clear |
| J J T van Harssel, S Weckhuysen, M J A van Kempen, K Hardies, N E Verbeek, C G F de Kovel, W B Gunning, E van Daalen, M V de Jonge, A C Jansen, R J Vermeulen, W F M Arts, H Verhelst, A Fogarasi, J F de Rijk-van Andel, A Kelemen, D Lindhout, P De Jonghe, B P C Koeleman, A Suls, E H Brilstr. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. Neurogenetics. vol 14. issue 1. 2013-08-05. PMID:23334464. |
epilepsy and mental retardation limited to females (efmr), caused by pcdh19 mutations, has a variable clinical expression that needs further exploration. |
2013-08-05 |
2023-08-12 |
Not clear |
| A K Vincent, A Noor, A Janson, B A Minassian, M Ayub, J B Vincent, C F More. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clinical genetics. vol 82. issue 6. 2013-04-12. PMID:22091964. |
recently, missense and truncating mutations in the gene pcdh19 have been reported to cause female-restricted epilepsy with mental retardation (efmr). |
2013-04-12 |
2023-08-12 |
Not clear |
| A Terracciano, N Specchio, F Darra, A Sferra, B Dalla Bernardina, F Vigevano, E Bertin. Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. Neurogenetics. vol 13. issue 4. 2013-04-10. PMID:22949144. |
the occurrence of epilepsy with mental retardation limited to females (efmr; mim 300088) has been recently associated to mutations in the pcdh19 gene, located on chromosome x and encoding for protocadherin 19. |
2013-04-10 |
2023-08-12 |
Not clear |
| Petia S Dimova, Andrey Kirov, Albena Todorova, Tihomir Todorov, Vanyo Mite. A novel PCDH19 mutation inherited from an unaffected mother. Pediatric neurology. vol 46. issue 6. 2013-03-29. PMID:22633638. |
it indicates that pcdh19 mutation testing should be performed in sporadic cases with no family history that still demonstrate well-established features of peculiar x-linked epilepsy with mental retardation limited to females. |
2013-03-29 |
2023-08-12 |
Not clear |
| Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie Müller, Gregor Kuhlenbäumer, Andreas van Baale. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology. vol 54. issue 12. 2013-02-07. PMID:23066759. |
febrile infection-related epilepsy syndrome (fires) is not caused by scn1a, polg, pcdh19 mutations or rare copy number variations. |
2013-02-07 |
2023-08-12 |
Not clear |
| Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie Müller, Gregor Kuhlenbäumer, Andreas van Baale. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology. vol 54. issue 12. 2013-02-07. PMID:23066759. |
fires shares several phenotypic features with epilepsies seen in patients with protocadherin 19 (pcdh19), sodium channel protein type 1 subunit alpha (scn1a), and dna polymerase subunit gamma-1 (polg) mutations. |
2013-02-07 |
2023-08-12 |
Not clear |
| Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrin. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia. vol 53. issue 12. 2013-02-01. PMID:22946748. |
focal seizures with affective symptoms are a major feature of pcdh19 gene-related epilepsy. |
2013-02-01 |
2023-08-12 |
Not clear |
| Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrin. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia. vol 53. issue 12. 2013-02-01. PMID:22946748. |
mutations of the protocadherin19 gene (pcdh19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. |
2013-02-01 |
2023-08-12 |
Not clear |
| Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrin. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia. vol 53. issue 12. 2013-02-01. PMID:22946748. |
despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with pcdh19 mutations is still unclear. |
2013-02-01 |
2023-08-12 |
Not clear |
| Norimichi Higurashi, Xiuyu Shi, Sawa Yasumoto, Hirokazu Oguni, Masako Sakauchi, Kazuya Itomi, Akie Miyamoto, Hideaki Shiraishi, Takeo Kato, Yoshio Makita, Shinichi Hiros. PCDH19 mutation in Japanese females with epilepsy. Epilepsy research. vol 99. issue 1-2. 2012-09-19. PMID:22050978. |
pcdh19 mutation in japanese females with epilepsy. |
2012-09-19 |
2023-08-12 |
Not clear |
| Norimichi Higurashi, Xiuyu Shi, Sawa Yasumoto, Hirokazu Oguni, Masako Sakauchi, Kazuya Itomi, Akie Miyamoto, Hideaki Shiraishi, Takeo Kato, Yoshio Makita, Shinichi Hiros. PCDH19 mutation in Japanese females with epilepsy. Epilepsy research. vol 99. issue 1-2. 2012-09-19. PMID:22050978. |
to determine the significance of pcdh19 mutations in japanese females with epilepsy and to delineate their phenotypes. |
2012-09-19 |
2023-08-12 |
Not clear |
| Ana Camacho, Rogelio Simón, Raúl Sanz, Antonio Viñuela, Antonio Martínez-Salio, Fernando Mateo. Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature. Epilepsy & behavior : E&B. vol 24. issue 1. 2012-09-18. PMID:22504056. |
mutation in the protocadherin 19 (pcdh19) gene is an increasingly recognized cause of epilepsy in females. |
2012-09-18 |
2023-08-12 |
Not clear |
| Christel Depienne, Eric LeGuer. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Human mutation. vol 33. issue 4. 2012-07-09. PMID:22267240. |
heterozygous pcdh19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of inheritance as only heterozygous females are affected, whereas hemizygous males are asymptomatic. |
2012-07-09 |
2023-08-12 |
Not clear |
| Christel Depienne, Eric LeGuer. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Human mutation. vol 33. issue 4. 2012-07-09. PMID:22267240. |
pcdh19 has become the second most relevant gene in epilepsy after scn1a. |
2012-07-09 |
2023-08-12 |
Not clear |