NM_018489.3:c.3808C>T

This is the story of an adolescent girl in the 16–20 age group with a de novo pathogenic ASH1L nonsense variant, developmental and cognitive differences, speech-language impairment, hypotonia, early left-sided motor weakness, strabismus, and severe epilepsy dominated by daily absence seizures around waking. Two later tonic-clonic seizures caused falls and required hospital care. After vagus nerve stimulation, her family observed fewer daily absences and a meaningful increase in how awake and active she seemed, although her absence epilepsy remained uncontrolled. In March, her family reported another episode that they described as syncopal; they reported that the VNS stopped the seizure. Her family has also observed a recent, uncharacteristic shift toward aggressive and rebellious behavior after a period in which she had been calm and well-behaved.