NeuroGenetics
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Genetic Epilepsies
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Question 1
A child with SCN2A epilepsy and seizure onset at 18 months is started on carbamazepine (a sodium channel blocker). Her seizures worsen significantly over the following weeks. Based on the age of onset, what is the most likely explanation?
A
The carbamazepine dose is subtherapeutic and should be increased to achieve adequate serum levels
B
Late-onset (>3 months) SCN2A epilepsy is associated with loss-of-function variants — sodium channel blockers worsen seizures
C
SCN2A epilepsy always responds to sodium channel blockers regardless of age of onset or variant type
D
Carbamazepine is contraindicated in all SCN2A genotypes and should never be used in these patients
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