A Multidisciplinary Team-Based Approach to Optimizing Outcomes in Developmental and Epileptic Encephalopathies: Clinical Pearls for the Community Practitioner
Podcast 1: History, Burden, and Genetic Implications
Pre-test

Questions marked with a * are required

100%

Contact Information

First Name

Last Name

Email Address

Which of the following is true regarding developmental and epileptic encephalopathies?

Roughly 80% experience seizure control with initial therapy

The most common genes implicated are PHLDA2 and GABRA5

Diagnosis is often missed in childhood, leading to challenges throughout a patient’s life

There have not been any new therapies approved for these conditions in the last 10 years

An 11-month-old boy is referred to you. At 3 months of age, he experienced a myoclonic seizure followed by a 20-minute generalized tonic-clonic seizure following a fever after DPT immunization. He continued to experience GTCS once per day 15%–20 seconds. At 9 months of age, he received a second DPT immunization, and on the same day, had another GTCS lasting 35 minutes. CT showed a subdural hygroma in the right and left frontoparietal region; EEG showed an abnormal epileptiform (spike wave) with a normal background. With additional workup, you suspect Dravet syndrome and order genetic testing. In this patient, a mutation of which of the following would be most likely if he has Dravet syndrome?

SCN1A

PRRT2

HCN1

MLC1