Table 4.

Treatment of Manifestations in Individuals with a KCNQ2-Related Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Education of parents/caregivers 1
  • Seizures in persons w/SLFNE are generally controlled w/conventional ASM treatment, while seizures in persons w/NEO-DEE may be resistant to multiple ASMs alone or in combination.
  • Per a recent systematic review on ASM treatment in KCNQ2-related disorders, 2 40/133 persons (~30%) w/the SLFNE phenotype experienced seizure freedom spontaneously; phenobarbital & sodium channel blockers (CBZ, OXC, LTG, & PHT) most often → seizure freedom in the remainder. 3
  • In persons w/KCNQ2-NEO-DEE, seizure freedom was more likely to be achieved when on sodium channel blockers. 4
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Spasticity
  • Orthopedics / physical medicine & rehab / PT & OT
  • Incl stretching to help avoid contractures & falls
Consider need for positioning & mobility devices, disability parking placard.
Poor weight gain /
Slow growth
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Gastrointestinal
dysfunction 		Monitor for reflux or constipation.Treatment as needed
Ophthalmologic
involvement 		By ophthalmologistTreatment of refractive errors &/or strabismus
Central visual
impairment 		No specific treatmentEarly intervention program to stimulate visual development
Hearing Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; CBZ = carbamazepine; DD/ID = developmental delay / intellectual disability; LTG = lamotrigine; NEO-DEE = neonatal-onset developmental and epileptic encephalopathy; OT = occupational therapy; OXC = oxacarbazepine; PHT = phenytoin; PT = physical therapy; SLFNE = self-limited familial neonatal epilepsy

1.

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.

2.
3.
4.

From: KCNQ2-Related Disorders

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