Clinical features and mutations of voltage-gated sodium channel subunit type 1 gene in myoclonic-astatic epilepsy in infancy
10.3760/cma.j.issn.1671-8925.2009.08.022
- VernacularTitle:肌阵挛-站立不能性癫痫的临床特征及其电压门控性钠通道α1亚基基因突变检测
- Author:
Xiao-Rong LIU
1
;
Xin ZOU
;
Mei-Juan YU
;
Yi-Wu SHI
;
Hao-Hui CHANG
;
Wei-Ping LIAO
Author Information
1. 广州医学院附属第二医院
- Keywords:
Myoclonic-astatic epilepsy;
Voltage-gated sodium channel subunit type 1 gene
- From:
Chinese Journal of Neuromedicine
2009;8(8):839-843
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical features and genetic mechanism of myoclonic-astafic epilepsy (MAE) in infancy. Methods This study was conducted among 10 infants with MAE (including 7 male and 3 female patients) diagnosed between 2006 and 2008 according to the criteria of International League Against Epilepsy (2001). The clinical data including onset age, seizure type, physical signs, EEG, brain maguetic resonance imaging (MRI), effects of anti-epileptic drugs and prognosis were analyzed. The mutations of voltage-gated sodium channel subunit type 1 gene (SCN1A gene) were screened by denaturing high performance liquid chromatography and direct sequencing. Results The 10 MAE cases included 8 sporadic cases and 2 with a family history of febrile seizure and epilepsy. The onset age ranged from 5 months to 39 months, and all the MAE patients had multiple generalized seizure types, including myoclonic-atonic, myoclonic, atonic, tonic-clonic and absence seizures. Two patients had myoclonic status epilepticus, and 7 showed mental retardation. All the patients showed normal findings in MRI. SCN1A gene was screened in 8 of the MAE patients, and no mutation was found. Valproate, clonazepam and levetiracetam were effective in these MAE cases. Conclusion MAE is a rare epilepsy syndrome, whose genetic mechanism is still unclear. Valproate, clonazepam and levetiracetam are effective for MAE, which is associated with poor prognosis.
