Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype.

Abstract excerpt

A girl had been seen at 15 months of age for developmental expressive language and gross motor delays and had subsequent serially normal neurological evaluations until age 6 years when she developed a new abnormality of gait clinically similar to a paroxysmal kinesigenic dyskinesia for which she tested negative. Multiple maternal family members were known to have a pathogenetic variant in N-α-acetyltransferase 10...

Topics

• Humans
• Female
• Phenotype
• Child
• N-Terminal Acetyltransferase A
• N-Terminal Acetyltransferase E