Update on treatment of the developmental and epileptic encephalopathies

سال انتشار: 1400
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 134

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شناسه ملی سند علمی:

EPILEPSEMED18_008

تاریخ نمایه سازی: 16 اسفند 1400

چکیده مقاله:

The brain is the most complex creature in the universe and many genes, proteins, pathways, and networks work together to give function to this complex creature. A normal brain not only does not seize but also leads to normal development. Patients with developmental and epileptic encephalopathies show developmental impairments because of two reasons; underlying etiology and frequent epileptiform activity. Almost all these developmental epileptic encephalopathies have a genetic basis from copy number variants with many involved genes to single nucleotide variants with just one base change. In many of these developmental and epileptic encephalopathies, the traditional approach to seizure management could lead to devastating results such as worsening of encephalopathy after administering sodium channel blockers to manage focal seizures in Dravet syndrome. In recent years and after increasing our knowledge of the genetic basis of developmental and epileptic encephalopathies and their underlying pathophysiologic mechanisms, the precision medicine approach to seizure management has revolutionized the outcome of these conditions. In this short talk, I will rapidly review the precision medicine approach in Dravet syndrome as the prototype of developmental and epileptic encephalopathies in children.

نویسندگان

Reza Azizi Malamiri

MD Assistant Professor, Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.