Novel mutation in a patient with late onset GLUT1 deficiency syndrome.

Autor: Juozapaite S; Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania. Electronic address: sandra.melnik10@gmail.com., Praninskiene R; Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania., Burnyte B; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania; Center for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius 08661, Lithuania., Ambrozaityte L; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania; Center for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius 08661, Lithuania., Skerliene B; Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania.

Publikováno v: Brain & development [Brain Dev] 2017 Apr; Vol. 39 (4), pp. 352-355. Date of Electronic Publication: 2016 Dec 05.

Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

Autor: Daci, Armond, Bozalija, Adnan, Jashari, Fisnik, Krasniqi, Shaip

Publikováno v: International Journal of Molecular Sciences; Jan2018, Vol. 19 Issue 1, p122, 10p, 1 Diagram, 2 Charts