OBJECTIVES: @entity8031 mutations were recently reported in several @entity1 with @entity3148 ( @entity3148 ). The authors analyzed @entity8031 mutations in 93 @entity1 with @entity3148 and made genotype-phenotype correlation to clarify the role of this gene in the etiology of @entity3148 . METHODS: All @entity1 fulfilled the criteria for @entity3148 . The authors analyzed all @entity1 for @entity8031 mutations using denaturing high performance liquid chromatography. If a @entity1 's chromatogram was abnormal, the authors sequenced the gene in the @entity1 and both parents. RESULTS: @entity8031 mutations were identified in 33 @entity1 (35%). Most mutations were de novo, but were inherited in three @entity1 . Parents carrying the inherited mutations had either no symptoms or a milder form of @entity302 . A greater frequency of unilateral motor @entity410 was the only clinical difference between @entity1 with @entity8031 mutations and those without. Truncating mutations were more frequently associated with such @entity410 than were missense mutations. The percentage of cases with family history of @entity302 was significantly higher in @entity1 with @entity8031 mutations. CONCLUSIONS: Unilateral motor @entity410 may be a specific clinical characteristic of @entity3148 caused by @entity8031 mutations. Ten percent of @entity8031 mutations are inherited from an asymptomatic or mildly affected parent, suggesting that @entity3148 is genetically heterogeneous. The increased frequency of @entity302 indicates that other genetic factors may contribute to this disorder.

Spectrum of XXXX mutations in severe @entity3148 of infancy.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures'] @entity8031 :: ('6323', 'Gene') :: ['SCN1A'] @entity302 :: ('MESH:D004827', 'Disease') :: ['familial epilepsy', 'epilepsy'] @entity3148 :: ('MESH:D004831', 'Disease') :: ['severe myoclonic epilepsy in infancy', 'SMEI']
@entity8031 :: (6323,Gene) :: ['SCN1A']
