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Eslicarbazepine – Hyponatraemia Risk — SCE Neurology MCQ

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HardEpilepsy & Seizure DisordersEslicarbazepine – Hyponatraemia RiskSCE Neurology

A 19-year-old with developmental impairment has absence, myoclonic and atonic seizures. EEG repeatedly shows bursts of generalised spikes and spike-slow waves with a striking occipital predominance, plus photosensitivity. Which genetic diagnosis should be prioritised?

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Correct answer: C — SYNGAP1-related developmental and epileptic encephalopathy

Explanation lettering: B = shown as A · E = shown as B · D = shown as C · A = shown as D · C = shown as E

D is correct: SYNGAP1-related developmental and epileptic encephalopathy characteristically combines intellectual disability with multiple generalised seizure types and ictal or interictal generalised spike and spike-slow-wave bursts showing occipital predominance. Photosensitivity is supportive but not unique. Dravet syndrome is usually fever-sensitive with onset in infancy. PCDH19 disease classically causes clustered febrile seizures in females. CHD2 is strongly photosensitive but does not supply the particularly characteristic occipital-predominant SYNGAP1 pattern.

Reference: Investigating adults with early-onset epilepsy and intellectual or physical disability: https://pn.bmj.com/content/19/2/115