Neurogenetics Curriculum
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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
Her variant likely produces a gain-of-function channel, and carbamazepine's use-dependent block paradoxically increases persistent sodium current at therapeutic doses
D
Carbamazepine autoinduction lowered its own serum level over the first weeks, so the worsening reflects declining drug exposure
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