Early and effective treatment of KCNQ2 encephalopathy
- Resource Type
- Academic Journal
- Authors
- Pisano, Tiziana; Numis, Adam L.; Heavin, Sinéad B.; Weckhuysen, Sarah; Angriman, Marco; Suls, Arvid; Podesta, Barbara; Thibert, Ronald L.; Shapiro, Kevin A.; Guerrini, Renzo; Scheffer, Ingrid E.; Marini, Carla; Cilio, Maria Roberta
- Source
- Epilepsia. May 01, 2015 56(5):685-691
- Subject
- Language
- English
- ISSN
- 0013-9580
OBJECTIVES:: To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life. METHODS:: RESULTS:: SIGNIFICANCE:: Our findings suggest that drugs acting on sodium channels including CBZ and PHT should be considered as first-line treatment in patients with KCNQ2 encephalopathy. Voltage-gated sodium and potassium channels co-localize at the neuronal membrane. Therefore, the efficacy of drugs acting as sodium-channel blockers could be linked to their modulating effect on both channels. The type of KCNQ2 mutation might influence AED response as well as developmental outcome. Early recognition of KCNQ2 encephalopathy followed by the most appropriate and effective treatment may be important for reducing the neurodevelopmental impairment associated with this disorder.