Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population
| Autor: | Xinxiang Yan, Hong Jiang, Beisha Tang, Zhanfang Sun, Nan Li, Lu Shen, Xiang-Qian Che, Xiao Mao, Kun Xia |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Pathology China Adolescent Population Nerve Tissue Proteins medicine.disease_cause 03 medical and health sciences Epilepsy 0302 clinical medicine Pleiotropy Medicine Humans education Child education.field_of_study Mutation business.industry General Neuroscience Membrane Proteins PRRT2 Gene General Medicine medicine.disease Epilepsy Rolandic 030104 developmental biology Child Preschool Epilepsy syndromes Benign epilepsy Female business 030217 neurology & neurosurgery PRRT2 |
| Zdroj: | The International journal of neuroscience. 127(1) |
| ISSN: | 1563-5279 |
| Popis: | Proline-rich transmembrane protein 2 gene (PRRT2) mutations are reported to cause common paroxysmal neurological disorders and show a remarkable pleiotropy. Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common epilepsy syndrome in childhood. It is placed among the idiopathic localization related epilepsies. Recently, it was reported that a girl with a PRRT2 mutation c.649_650insC developed infantile focal epilepsy with bilateral spikes which resembled the rolandic spikes. Hereby we performed a comprehensive genetic mutation screening of PRRT2 gene in a cohort of 53 sporadic BECTS patients. None of the 53 sporadic BECTS patients and other 250 controls carried mutations including c.649_650insC in PRRT2. Our data indicated that the PRRT2 mutations might most likely not be associated with BECTS in Chinese mainland population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|