Abstracts

Rationale: We present a case of an initially developmentally normal female infant with seizures of an unusual semiology and KCNQ2 mutation variant of unknown significance. Methods: At 3 months of age, the child developed episodes of lip and bilateral eyebrow quivering associated with tongue thrusting and chewing motions, lasting 20-60 seconds and occurring up to 5 times per day. Results: These were captured on EEG and confirmed to be electroclinical seizures originating in C4 with spread to P4. The background was normal for age MRI performed at this time was also normal. Levetiracetam was initiated and she was discharged on 40mg/kg/day after achieving seizure freedom for 24 hours. However, she was readmitted 10 days later for recurrent seizure activity. EEG was repeated and showed multiple seizures of similar semiology but now with a generalized and bilateral centroparietal onset superimposed on a background of multifocal spikes and right centrotemporal slowing. She was started on Topiramate and has been seizure free since achieving goal dose with repeat EEG one month after discharge within normal limits. Conclusions: An extensive genetic and metabolic workup was performed and was remarkable for a variant of unknown significance in the KCNQ2 gene (c.1627 g>A). In further genetic work up, it was found that the father, who is asymptomatic, also had the same mutation of KCNQ2, and there is no other known family history of epilepsy. Our patient represents a unique presentation for a KCNQ2 mutation as she neither had the severe early infantile epileptic encephalopathy nor the benign neonatal seizures. Her development was initially normal but at follow up 3 months post-admission, it was notable for motor delays but was otherwise within normal limits in other domains. In addition, she presented at an older age than most children affected by KCNQ2 mutations, and her semiology of eye lid and mouth quivering is also an unusual type as these patients usually have tonic seizures or more clearly focal motor seizures. As her father also carries this variant, its relevance remains unclear. This combined with her initial good response to Topamax is a promising prognostic sign in this unusual presentation. Funding: None