Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol

Seizure. 2021 May:88:143-145. doi: 10.1016/j.seizure.2021.04.012. Epub 2021 Apr 17.

¹ Department of Pediatric Neuroscience, full member of ERN EpiCARE, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
² Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
³ Department of Epileptology, full member of ERN EpiCARE, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁴ Developmental Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁵ Department of Pediatric Neuroscience, full member of ERN EpiCARE, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, Epilepsy Center, ASST San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Electronic address: jacopo.difrancesco@unimib.it.
⁶ Department of Pediatric Neuroscience, full member of ERN EpiCARE, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: tiziana.granata@istituto-besta.it.

No abstract available

Keywords: CNTNAP2; Next Generation Sequencing; Pitt-Hopkins syndrome; epilepsy; stiripentol.

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