title: [Duchenne and Becker muscular dystrophy complicated with epilepsy].
abstract: OBJECTIVE
  To summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.
  
  
  METHODS
  By a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.
  
  
  RESULTS
  (1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.
  
  
  CONCLUSIONS
  The prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.
authors.forename: Wei
authors.initials: W
authors.lastname: Cuijie
authors.forename: Yang
authors.initials: Y
authors.lastname: Haipo
authors.forename: Fu
authors.initials: F
authors.lastname: Xiaona
authors.forename: Liu
authors.initials: L
authors.lastname: Aijie
authors.forename: Ding
authors.initials: D
authors.lastname: Juan
authors.forename: Song
authors.initials: S
authors.lastname: Shujuan
authors.forename: Wang
authors.initials: W
authors.lastname: Shuang
authors.forename: Chang
authors.initials: C
authors.lastname: Xingzhi
authors.forename: Yang
authors.initials: Y
authors.lastname: Yanling
authors.forename: Jiang
authors.initials: J
authors.lastname: Yuwu
authors.forename: Xiong
authors.initials: X
authors.lastname: Hui
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D004827:Epilepsy / Q000150:complications* / Q000188:drug therapy / Q000453:epidemiology; D005091:Exons; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012640:Seizures; D017384:Sequence Deletion
chemical_list: D000927:Anticonvulsants