CACNA1A-associated epileptic encephalopathy triggered by minor trauma: importance of early diagnosis and appropriate treatment.

Abstract

This case describes a female toddler who presented with status epilepticus, altered sensorium and hemiparesis after a trivial trauma, initially raising suspicion for acute ischaemic stroke. However, genetic analysis identified a novel heterozygous CACNA1A mutation, confirming developmental and epileptic encephalopathy. The child was subsequently started on targeted therapy with flunarizine, acetazolamide and antiepileptic medications, which led to effective seizure control and neurological improvement. This case emphasises the need to consider CACNA1A-associated encephalopathy in children presenting with post-traumatic seizures and encephalopathy, as early diagnosis facilitates individualised treatment and may alter disease trajectory.