A Multidisciplinary Team-Based Approach to Optimizing Outcomes in Developmental and Epileptic Encephalopathies: Clinical Pearls for the Community Practitioner
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A patient is diagnosed with Dravet syndrome. A mutation of which of the following genes would most likely have been seen on her genetic test?
PRRT2
HCN1
SCN1A
MLC1
Which of the following is best described as preparing to move from child-centered to adult-oriented healthcare systems?
Transfer
Transition
Transport
Handover
A 6-month-old boy presents with new onset of seizures consisting of generalized shaking, which have responded only briefly to benzodiazepines. Phenobarbital is given with little response; fosphenytoin is given with some seizure reduction but intubation is required due to sedation and an inability to protect the airway. EEG is notable for ongoing electrographic seizures; MRI reveals increased signal in the left basal ganglia. Lab test are normal. Seizures are treated with fosphenytoin and midazolam continuous infusion, and genetic testing is sent, revealing a pathogenic variant in SCN2A. Which of the following would you try at this point?
Carbamazepine
Quinidine
Memantine
Everolimus
For a 5-year old girl with Dravet syndrome who is not seizure free with first and second line agents (currently taking valproate and clobazam) and experienced significant side effects with fenfluramine and stiripentol, which of the following would be an appropriate agent to try next?
Lamotrigine.
Phenytoin.
Oxcarbazepine.
Pharmaceutical grade CBD.
At what age should you begin the discussion and preparation for the change from a pediatric to an adult model of care?
8-10.
12-14.
16-17.
18.
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