Eur J Paediatr Neurol 2021 Jan 24;30:25-28. Epub 2020 Dec 24.
Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:
Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. This study aimed to better understand the phenotypic spectrum of epilepsy and development in Desanto-Shinawi syndrome. Read More