A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures

Telephone-induced seizures have recently been described as a distinct form of idiopathic reflex epilepsy in which seizures are repeatedly and exclusively triggered by answering the telephone.1 Typical auras consist of auditory or vertiginous symptoms and the inability to speak or understand spoken voices. These features, along with specific EEG ictal findings in one patient, suggest that this condition involves the lateral temporal area.1 Autosomal dominant partial epilepsy with auditory features (ADPEAF; OMIM 600512), or autosomal dominant lateral temporal epilepsy (ADLTE), is a rare familial partial epilepsy syndrome with onset in childhood/adolescence and benign evolution. 2,3 The hallmark of the syndrome consists of the presence of typical auditory auras or ictal aphasia in most affected family members, sometimes triggered by environmental sounds and noises. ADPEAF is associated in about half of the families with mutations of the leucine-rich, glioma-inactivated 1 (LGI1)/ Epitempin gene,3,4 the function of which is still unclear. Earlier we described a series of sporadic patients with idiopathic partial epilepsy with auditory features (IPEAF) who were clinically indistinguishable from ADPEAF cases5 and found an IPEAF patient with a de novo LGI1/Epitempin mutation resulting in protein truncation.6 We now report another de novo LGI1/Epitempin mutation identified in an Italian woman with telephone-induced seizures.