De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.

Autor: Ullman NL; The Johns Hopkins University School of Medicine, Baltimore, Maryland., Smith-Hicks CL; Department of Neurology, Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland., Desai S; Department of Neurology, Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland., Stafstrom CE; Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: cstafst1@jhmi.edu.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2018 Aug; Vol. 85, pp. 76-78. Date of Electronic Publication: 2018 Apr 04.
DOI: 10.1016/j.pediatrneurol.2018.03.005
Databáze: MEDLINE