Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome.

摘要: Introduction: Dravet syndrome (severe myoclonic epilepsy in infancy) begins the first year of life characterized by generalized or unilateral clonic seizures that are frequently triggered high fever. A subsequent worsening stage occurs (in years 1-4 life) and seizure activity is accompanied disturbed psychomotor development. The third disease, known as 'stabilization phase,' associated with intellectual impairment. Of note, a mutation voltage-gated sodium-channel gene α 1 subunit (SCN1A) has been found around 85% patients syndrome.Areas covered: authors review current treatment strategies well potential drugs initial stages clinical evaluation. also protective mice models syndrome.Expert opinion: Experimental data results from studies have brought attention to several various mechanisms action including: ataluren (a suppressant premature stop codons; under evaluation), EPX-100, EPX-200, fenfluramine (serotonin modulators), soticlestat (an 24-hydroxylase cholesterol enzyme inhibitor), SPN-817 inhibitor acetylcholinesterase), verapamil voltage-dependent calcium channel inhibitor) STK-001 antisense oligonucleotide). latter scheduled for