Title |
Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy
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Published in |
Epilepsia, September 2012
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DOI | 10.1111/j.1528-1167.2012.03649.x |
Pubmed ID | |
Authors |
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 Guerrini |
Abstract |
Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
Ethiopia | 1 | <1% |
France | 1 | <1% |
Unknown | 113 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 16 | 14% |
Student > Master | 16 | 14% |
Student > Ph. D. Student | 15 | 13% |
Researcher | 11 | 9% |
Student > Postgraduate | 9 | 8% |
Other | 28 | 24% |
Unknown | 21 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 39 | 34% |
Neuroscience | 19 | 16% |
Psychology | 14 | 12% |
Agricultural and Biological Sciences | 5 | 4% |
Biochemistry, Genetics and Molecular Biology | 4 | 3% |
Other | 5 | 4% |
Unknown | 30 | 26% |