SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus

Seizure. 2020 Nov:82:56-58. doi: 10.1016/j.seizure.2020.09.011. Epub 2020 Sep 23.

¹ Unit of Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
² Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1). Electronic address: [email protected].
³ Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
⁴ Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁵ Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
⁶ Biomedical Engineering, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁷ Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1); Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.

No abstract available

Keywords: Myoclonus; Progressive myoclonus epilepsy; SCN8A gene; Sodium channelopathy.

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