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SHE (ADNFLE) – CHRNA4 Mutation — SCE Neurology MCQ

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HardEpilepsy & Seizure DisordersSHE (ADNFLE) – CHRNA4 MutationSCE Neurology

A 28-year-old has six to eight nightly episodes of abrupt asymmetric tonic posturing and complex thrashing, each lasting 20–40 seconds, often in clusters. Two routine EEGs are normal and events have been labelled parasomnias. Which investigation is most useful next?

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Correct answer: D — Prolonged video-EEG capturing habitual nocturnal events

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

A is correct: highly stereotyped, brief, clustered nocturnal motor attacks remain compatible with sleep-related hypermotor epilepsy despite normal routine EEG, and capturing habitual events with prolonged video-EEG best separates epilepsy from parasomnia. B misuses normal routine EEG to exclude epilepsy. C assesses hypersomnolence. D lacks electrophysiology and video. E may alter events without establishing the diagnosis.

Reference: NICE NG217: diagnosis and assessment of epilepsy: https://www.nice.org.uk/guidance/ng217/chapter/Diagnosis-and-assessment-of-epilepsy