Epilepsy with auditory features

  title={Epilepsy with auditory features},
  author={Tommaso Pippucci and Laura Licchetta and Sara Baldassari and Flavia Palombo and Veronica Menghi and Romina D'Aurizio and Chiara Leta and Carlotta Stipa and Giovanni Boero and Giuseppe d'Orsi and Alberto Magi and Ingrid E. Scheffer and Marco Seri and Paolo Tinuper and Francesca Bisulli},
Objective: To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis. Methods: We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with EAF (including all the probands and 5 relatives) to identify single nucleotide variants, small… CONTINUE READING


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