Management

Treatment is symptomatic, multidisciplinary and ideally coordinated by a neuropediatrician.
Epilepsy can be difficult to control at the beginning, with a “stormy” phase, while during childhood seizures are usually well-controlled with anti-seizure medications. Seizures are most frequently focal motor, at times focal to bilateral tonic-clonic.
In more severe cases, feeding difficulties, failure to thrive with increased potentially fatal comorbidities may be observed and need prompt paediatric care.
Genetic counselling is essential, especially in cases of heterozygous variants.