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Pedigrees of hyperekplexia families. A–C, Affected individuals are indicated by filled symbols (index patients are marked with asterisks) and unaffected individuals are noted with open symbols. Half-closed symbols represent family members with only one mutant allele. Direct sequencing of affected exons is shown on the right. Heterozygosity or homozygosity (T162M) are marked with an arrow and listed in part of the GLRA1 sequence in either sense or antisense direction.
