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Mesial temporal lobe epilepsy with Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common epilepsy syndrome accounting for approximately 20% of people with epilepsy.1 It typically shows electroclinical features indicative of seizure onset in the mesial or limbic structures of the temporal lobe, i.e., epigatric/visceral, autonomic, psycho-affective, and sensorial symptoms, including déjà vu.1 Awareness is generally preserved at onset, but loss of consciousness may also occur, with motionless stare and oro-alimentary, vocal, or gestural automatisms, eventually followed by a convulsive seizure. EEGs show anterior or mid-temporal epileptic abnormalities combined with focal slowing. Hippocampal sclerosis (HS) is demonstrable on coronal MRI sequences by a unilateral (or asymmetrical) decrease in hippocampal volume and an increase in signal on T2-weighted sequences. The neuropathologic hallmark of HS is a combination of atrophy and astrogliosis of the amygdala, hippocampus, uncus, parahippocampal gyrus, and the entorhinal cortex.1 The diagnosis of MTLE-HS is crucial because it is often uncontrolled by antiseizure drugs but typically responsive to resective surgery.2,3

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy