SEVERE EPILEPTIC ENCEPHALOPATHY OF EARLY CHILDHOOD DUE TO SCN2A MUTATION

SCN2A mutations are traditionally described in benign infantile seizures. We are describing rather rare case of epileptic encephalopathy associated with incertion of ctg/ctGg in SCN2A. The female child was born at term by normal delivery after non-complicated pregnancy. Seizures started when she was 3 months old as focal tonic, later on myoclonic seizures developed. They were refractory to all used antiepileptic drugs including valproic acid, topiramate, lamotrigine, ethosuximide and tetracoside. At age of two child is mentally retarded and autistic, unable to walk (because of muscular hypotonia), has no active speech and still has asymmetrical tonic and myoclonic seizures. Unspecific modest brain atrophy was revealed by MRI. Metabolic screening, including urine and serum amino acids, organic acids, lactate, was normal. Our case (alongside with others depicted in literature) confirms that spectrum of phenotypes, associated with mutations in SCN2A, is very wide – from benign infantile seizures to severe epileptic encephalopaties leading to mental retardation, motor and speech disorders

Empowering teacher students for diversity in schools: Mentorship model as a mediator in sweden

WOS: 00043016790001

Pirate panics : comparing news and blog discourse on illegal file sharing in Sweden

This paper aimed at examining the barriers to and facilitators of disseminating and utilizing the results of a local Swedish school survey. Interviews with 21 school district managers/principals were performed. Results showed that dissemination and utilization of local survey data appeared as two interrelated processes. With those processes, various barriers and facilitators were mentioned. The barriers and facilitators were not merely the opposites of each other; instead they qualitatively differed from each other depending on what phase in the process the manager/principal referred to. The results also showed that the dissemination phase was both a prerequisite for and interwoven with the utilization phase, e.g. dissemination efforts were important for how the survey results were utilized