The phenotypic spectrum of XXXX @entity75 .

@entity1 @entity410 @entity717 @entity18127 @entity75 @entity245 @entity1372 @entity2421 @entity2473 @entity302 @entity2048 @entity3519 @entity8416 @entity427 @entity2055
OBJECTIVE: @entity8416 encodes the @entity1372 channel voltage-gated a8-subunit ( @entity18127 .6). @entity8416 mutations have recently been associated with @entity302 and @entity245 . We aimed to delineate the phenotype associated with @entity8416 mutations. METHODS: We used high-throughput sequence analysis of the @entity8416 gene in 683 @entity1 with a range of @entity302 . In addition, we ascertained cases with @entity8416 mutations from other centers. A detailed clinical history was obtained together with a review of EEG and imaging data. RESULTS: Seventeen @entity1 with de novo heterozygous mutations of @entity8416 were studied. @entity410 onset occurred at a mean age of 5 months (range: 1 day to 18 months); in general, @entity410 were not triggered by fever. Fifteen of 17 @entity1 had multiple @entity410 types including focal, tonic, clonic, @entity2048 , and @entity302 ; @entity410 were refractory to antiepileptic therapy. Development was normal in 12 @entity1 and slowed after @entity410 onset, often with regression; 5 @entity1 had delayed development from birth. All @entity1 developed @entity717 , ranging from mild to severe. Motor manifestations were prominent including @entity2421 , @entity3519 , @entity427 , and @entity2055 . EEG findings comprised moderate to severe background slowing with focal or multifocal @entity302 . CONCLUSION: @entity8416 @entity75 presents in infancy with multiple @entity410 types including focal @entity410 and @entity2473 in some cases. Outcome is often poor and includes @entity2421 and @entity717 . The majority of mutations arise de novo, although we observed a single case of somatic mosaicism in an unaffected parent.
