Prolonged coma and cerebral oedema in a patient with an ATP1A2 variant

ATP1A2 (OMIM 182340) encodes the α2 subunit of Na+/K+-ATPase. Variation in this gene has been associated with a spectrum of clinical phenotypes, including familial hemiplegic migraine type 2 (FHM2), epilepsy and intellectual disability. A 22-year-old woman with intellectual disability, hemiplegic migraine and epilepsy presented with persistent decreased consciousness, unexplained by initial investigations. Two weeks later, repeat imaging showed new, marked cerebral oedema with no identified cause; this eventually resolved. A year later, she had a further milder episode. An epilepsy gene panel identified a likely pathogenic missense variant in the ATP1A2 gene (NM_000702.3: c.1027A>C, p.(Thr343Pro)). After starting memantine as a targeted treatment, her migraine and seizure frequency reduced. This case highlights the importance of early genetic testing in certain people with epilepsy to determine the cause and enable targeted therapeutic interventions.