| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou, Eric LeGuer. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation. vol 32. issue 1. 2011-12-19. PMID:21053371. |
mutations and deletions in pcdh19 account for various familial or isolated epilepsies in females. |
2011-12-19 |
2023-08-12 |
Not clear |
| Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou, Eric LeGuer. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation. vol 32. issue 1. 2011-12-19. PMID:21053371. |
mutations in pcdh19, encoding protocadherin 19 on chromosome x, cause familial epilepsy and mental retardation limited to females or dravet-like syndrome. |
2011-12-19 |
2023-08-12 |
Not clear |
| Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou, Eric LeGuer. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation. vol 32. issue 1. 2011-12-19. PMID:21053371. |
these results show that mutations in pcdh19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. |
2011-12-19 |
2023-08-12 |
Not clear |
| Nicola Specchio, Lucia Fusco, Federico Vigevan. Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia. vol 52. issue 11. 2011-12-19. PMID:21777234. |
acute-onset epilepsy triggered by fever mimicking fires (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (pcdh19) gene mutation. |
2011-12-19 |
2023-08-12 |
Not clear |
| Nicola Specchio, Lucia Fusco, Federico Vigevan. Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia. vol 52. issue 11. 2011-12-19. PMID:21777234. |
to report differences and similarities between febrile infection-related epilepsy syndrome (fires) and epilepsy in female patients with protocadherin 19 (pcdh19) mutation. |
2011-12-19 |
2023-08-12 |
Not clear |
| Nicola Specchio, Lucia Fusco, Federico Vigevan. Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia. vol 52. issue 11. 2011-12-19. PMID:21777234. |
we report, as exemplification, one of our patients with acute-onset epilepsy triggered by fever with clinical course resembling fires, but with a missense mutation of pcdh19 gene. |
2011-12-19 |
2023-08-12 |
Not clear |
| Nicola Specchio, Lucia Fusco, Federico Vigevan. Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia. vol 52. issue 11. 2011-12-19. PMID:21777234. |
we believe that female patients with febrile acute-onset epilepsy resembling fires are potential pcdh19 mutation carriers. |
2011-12-19 |
2023-08-12 |
Not clear |
| L M Dibbens, R Kneen, M A Bayly, S E Heron, T Arsov, J A Damiano, T Desai, J Gibbs, F McKenzie, J C Mulley, A Ronan, I E Scheffe. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology. vol 76. issue 17. 2011-06-24. PMID:21519002. |
recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of pcdh19 mutations. |
2011-06-24 |
2023-08-12 |
Not clear |
| L M Dibbens, R Kneen, M A Bayly, S E Heron, T Arsov, J A Damiano, T Desai, J Gibbs, F McKenzie, J C Mulley, A Ronan, I E Scheffe. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology. vol 76. issue 17. 2011-06-24. PMID:21519002. |
mutations in the protocadherin 19 (pcdh19) gene cause epilepsy and mental retardation limited to females (efmr). |
2011-06-24 |
2023-08-12 |
Not clear |
| Seema M Jamal, Raveen K Basran, Stephanie Newton, Zhenyuan Wang, Jeff M Milunsk. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. American journal of medical genetics. Part A. vol 152A. issue 10. 2010-11-16. PMID:20830798. |
novel de novo pcdh19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. |
2010-11-16 |
2023-08-12 |
Not clear |
| C Marini, D Mei, L Parmeggiani, V Norci, E Calado, A Ferrari, A Moreira, T Pisano, N Specchio, F Vigevano, D Battaglia, R Guerrin. Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. vol 75. issue 7. 2010-09-13. PMID:20713952. |
to explore the causative role of pcdh19 gene (xq22) in female patients with epilepsy. |
2010-09-13 |
2023-08-12 |
Not clear |
| Kim Hynes, Patrick Tarpey, Leanne M Dibbens, Marta A Bayly, Samuel F Berkovic, Raffaella Smith, Zahyia Al Raisi, Samantha J Turner, Natasha J Brown, Tarishi D Desai, Eric Haan, Gillian Turner, John Christodoulou, Helen Leonard, Deepak Gill, Michael R Stratton, Jozef Gecz, Ingrid E Scheffe. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics. vol 47. issue 3. 2010-06-17. PMID:19752159. |
epilepsy and mental retardation limited to females with pcdh19 mutations can present de novo or in single generation families. |
2010-06-17 |
2023-08-12 |
Not clear |
| Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J Turner, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, Andrew Jenkinson, Rebecca Shepherd, James F Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y Neufeld, Sara Kivity, Dorit Lev, Tally Lerman-Sagie, Amos D Korczyn, Christopher P Derry, Grant R Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung-Goo Kim, Daniel H Geschwind, Paul Thomas, Eric Haan, Stephen Ryan, Shane McKee, Samuel F Berkovic, P Andrew Futreal, Michael R Stratton, John C Mulley, Jozef Géc. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature genetics. vol 40. issue 6. 2008-06-19. PMID:18469813. |
pcdh19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation. |
2008-06-19 |
2023-08-12 |
mouse |