KCNQ2-Related Epilepsy: Genotype –Phenotype Relationship with Tailored Antiseizure Medication (ASM)—A Systematic Review

Conclusions Phenobarbital or carbamazepine appears to be the most effective antiseizure medication for children with a “benign” variant. On the contrary, polytherapy is often needed for DEE patients, even if it does not seem to improve neurological outcomes. In DEE patients, most mutations were located in S4 and S6 helix, which could serve as a potential target for the development of more specific treatment in the future. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - May 15, 2023 Category: Neurology Authors: Falsaperla, Raffaele Criscione, Roberta Cimino, Carla Pisani, Francesco Ruggieri, Martino Tags: Review Article Source Type: research