Table 5.

KCNQ3-Related Disorders: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Epilepsy SLFNE Standard treatment w/ASM by experienced neurologist
  • Seizures are generally well-controlled using standard ASM. Due to the limited nature of the epilepsy, most ASMs are discontinued between age 3-6 mos in KCNQ2-related disorders. 1 A significant number of persons w/SLFNE may experience seizure freedom spontaneously (40/133, ~30%), and phenobarbital & sodium channel blockers (carbamazepine [CBZ], oxcarbazepine [OXC], lamotrigine, & phenytoin) most often lead to seizure freedom in the remainder of persons. 2
  • Neonates w/more severe or intractable seizures may benefit from other ASM (e.g., levetiracetam & topiramate) despite limited data & off-label use. 3 However, refractory seizures are uncommon in KCNQ3-SLFNE.
  • One study has shown that early initiation of CBZ or OXC in SLFNE was assoc w/shorter hospitalization. No side effects of CBZ were reported, suggesting that CBZ is safe & rapidly effective in neonates w/SLFNE, even in status epilepticus, & that CBZ should be the drug of choice in SLFNE. 2
  • Education of parents/caregivers 4
SLFIE
  • Seizures are generally well-controlled using standard ASM. Due to the limited nature of the epilepsy, most ASMs are discontinued between age 1-3 yrs w/no relapses.
  • Phenobarbital, carbamazepine, or valproate have been shown to control seizures.
Developmental delay /
Intellectual disability 		Standard treatment, which may incl supportive developmental therapies (OT, PT, ST) to address specific delayed areas
  • Consultation w/neurodevelopmental specialist may be considered.
  • It is currently unclear whether behavior or cognition are improved by suppressing the abundant EEG abnormalities seen in some children during sleep.
Autism spectrum disorder Standard treatment, which may incl ABA therapy
Family/Community Ensure appropriate social work involvement to connect families w/local resources & support.

ABA = applied behavioral therapy; ASM = anti-seizure medication; CBZ = carbamazepine; OT = occupational therapy; OXC = oxcarbazepine; PT = physical therapy; ST = speech therapy

1.
2.
3.
4.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: KCNQ3-Related Disorders

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