Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

摘要: Objectives:SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy infancy (SMEI). The authors analyzed SCN1A 93 SMEI and made genotype-phenotype correlation to clarify the role of this gene etiology SMEI. Methods: All fulfilled criteria for all using denaturing high performance liquid chromatography. If a patient’s chromatogram was abnormal, sequenced patient both parents. Results:SCN1A identified 33 (35%). Most de novo, but inherited three patients. Parents carrying had either no symptoms or milder form epilepsy. A greater frequency unilateral motor seizures only clinical difference between those without. Truncating more frequently associated such than missense mutations. percentage cases family history significantly higher Conclusions: Unilateral may be specific characteristic caused by Ten percent are from an asymptomatic mildly affected parent, suggesting that is genetically heterogeneous. increased familial indicates other genetic factors contribute disorder.