In patient 1, we detected the novel c.139A>G [p.(Ser47Gly)] missense variant, located in the N-terminal domain of the protein. In patients 2 and 4, we identified the c.625C>T [p.(Arg209Cys)] missense variant. This variant has previously been reported in 1 patient with developmental delay, intellectual disability, and severe chorea, associated with the later onset of complex partial seizures.5 In patient 3, we observed the novel c.723+1G>A intronic variant, and in patient 5, the novel c.167T>C [p.(Ile56Thr)] missense variant, located in the N-terminal domain of the protein. In patient 6, we detected the c.118G>C [p.(Gly40Arg)] missense mutation, located in the N-terminal domain of the protein. A different mutation leading to the same amino acid change (c.118G>A [p.(Gly40Arg)]) has previously been described in a patient with infantile-onset epilepsy.3 In patient 7, we identified the novel c.737A>G [p.(Glu246Gly)] missense variant. A different nucleotide change in the same amino acid position, c.736G>A [p.(Glu246Lys)], had been reported as disease causing in patients exhibiting developmental delay, intellectual disability, and a paroxysmal movement disorder.5,8
