Year: 2023 | Month: October-December | Volume: 8 | Issue: 4 | Pages: 226-230
DOI: https://doi.org/10.52403/ijshr.20230432
Solute Carrier Transport Disease - A Rare Case Report
Dr. Akshita Kansal1, Dr. Abhijit Shinde2, Dr. Suresh Waydande3, Dr. Sunil Natha Mhaske4
1Junior Resident, Department of Paediatrics DVVPF’S Medical College and Hospital, Ahmednagar, India
2Associate Professor, Department of Paediatrics, DVVPF’S Medical College and Hospital, Ahmednagar, India
3Professor and HOD, DVVPF’S Medical College and Hospital, Ahmednagar, India
4Dean and Professor in Department of Paediatrics, DVVPF’S Medical College and Hospital, Ahmednagar, India
Corresponding Author: Dr. Akshita Kansal
ABSTRACT
The International Society for the Prevention of Epilepsy revised the classification in 2017, changing "encephalic encephalitis" to "encephalic developmental encephalitis". With the advancement of genetic technology, the number of genes that cause brain damage and the development of epileptic brain disease is increasing. Among these, the failure of the carrier to function is part of the etiology of developmental and mental diseases. Solute transporters play important physiological functions in the human body, and their dysfunction is associated with many human diseases. Therefore, in-depth studies of the development of infectious diseases and brain damage may help develop new therapies to improve the treatment of refractory epileptics and improve the patient's prognosis. In this article, the concept of transport chain is introduced for the first time and 9 brain development and brain diseases that occur as a result of malfunction of the transport chain are explained in terms of etiology, clinical features, diagnosis and correct treatment.
Keywords: Transport disease, epileptic encephalopathy, developmental encephalopathy, transporter protein, epilepsy