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J Neurol Neurosurg Psychiatry 74:1359-1361 doi:10.1136/jnnp.74.10.1359
  • Temporal lobe epilepsy
  • Editorial

Genetics of temporal lobe epilepsy

  1. L Vadlamudi,
  2. I E Scheffer,
  3. S F Berkovic
  1. Epilepsy Research Institute, University of Melbourne, Australia
  1. Correspondence to:
 Professor S Berkovic
 Epilepsy Research Institute, University of Melbourne, Austin Health, First Floor, Neurosciences Building, Banksia Street, Heidelberg West, VIC 3081, Australia; s.berkovicunimelb.edu.au

    Our traditional understanding is that TLE is an acquired condition, but only now are we beginning to understand the extent of genetic involvement

    In the second half of the 19th century, John Hughlings Jackson proposed the concept of partial epilepsy, including “uncinate seizures”, based on clinicopathological observations from patients with structural lesions and further supported by pioneering brain surgery.1,2

    With the discovery of EEG in the early 20th century, the concepts of temporal lobe epilepsy (TLE) were further elucidated. Gibbs et al3 described widespread slow activity during “psychomotor attacks”; they proposed a diffuse underlying cerebral disturbance, which was not in line with Jackson’s observations. Jasper and Kershman4 then described focal temporal sharp waves in patients they diagnosed with “temporal lobe seizures”. By the middle of the 20th century, the term TLE was widely utilised and much of the subsequent understanding of this disorder was based on pre-surgical studies of intractable cases. Traditionally, TLE has been considered to be an acquired disorder secondary to lesions such as hippocampal sclerosis, tumours, trauma, vascular malformations, and neuronal migration disorders.5

    Falconer et al, however, studied the aetiology of TLE in 110 refractory cases and demonstrated 95% of cases had underlying cerebral pathology, but also astutely stated, “these lesions, however may develop on a soil already predisposed to convulsions”.6 In the past 20 years, what is becoming more evident is this evolving key role of genetics in TLE.

    AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES

    In 1995, Ottman et al described partial epilepsy with auditory features linked to chromosome 10q7 and later termed the syndrome autosomal dominant partial epilepsy with auditory features (ADPEAF).8 Similar families mapping to the same region were described with prominent visual features or sensory dysphasia, all suggesting a lateral temporal origin.9,10 ADPEAF is a benign syndrome with …