Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.

CONCLUSIONS: Despite the same underlying mutation, clinical symptoms may vary among members of one family. Different clinical symptoms are observed depending on the patient's age. Not all symptoms occur in all patients within one family despite the same genetic background. However, the importance of early therapy for the clinical course of the disease requires further study.
PMID: 32247176 [PubMed - as supplied by publisher]

Source: Epilepsy and Behaviour - March 31, 2020 Category: Neurology Authors: Winczewska-Wiktor A, Hoffman-Zacharska D, Starczewska M, Kaczmarek I, Badura-Stronka M, Steinborn B Tags: Epilepsy Behav Source Type: research