@entity73083 , XXXX , and @entity42914 gene mutations.

@entity1 @entity5761 @entity1032 @entity73083 @entity73 @entity42914 @entity73084 @entity59502 @entity6795 @entity739 @entity302 @entity71419
PURPOSE: @entity73083 ( @entity73083 ) has been reported in sporadic @entity1 and in recessive pedigrees. Eleven mutations in @entity42914 , a gene encoding an evolutionarily dynamic G-protein-coupled receptor, have been identified in 29 @entity1 from 18 families. The clinical features of @entity73083 include severe @entity1032 , motor and @entity73 , and @entity302 . No detailed description of the @entity302 is available for the @entity1 reported to date. We report three consanguineous families in which four affected individuals with @entity73083 and @entity42914 mutations had @entity5761 . METHODS: Family studies, brain magnetic resonance imaging (MRI), electroencephalography (EEG)-video recordings, and mutation analysis. RESULTS: In Family 1, with one affected proband, we found an @entity73084 change in the second extracellular loop of @entity42914 , involving a highly conserved aminoacidic residue. In Family 2, with one affected proband, we found an @entity59502 change affecting the protein N-terminus and predicted to cause a premature truncation with loss of the G-protein-coupled receptor proteolytic site. In family 3, with two affected siblings, we found an @entity71419 substitution in the protein N-terminus, involving a highly conserved aminoacidic residue. @entity302 , present in all four @entity1 , had started between ages 1 and 8 years, with @entity739 in one @entity1 and with de novo @entity5761 in the remaining three. All @entity1 had @entity5761 when last observed, at ages 13 to 32 years. DISCUSSION: Several genes, when mutated, can cause @entity6795 that have been associated with the @entity5761 . @entity73083 caused by @entity42914 mutations represents an additional, although rare, genetically determined cause of @entity5761 .
