Article
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Neuropediatrics - 1 Oct 2023
Falsaperla Raffaele, Criscione Roberta, Cimino Carla, Pisani Francesco, Ruggieri Martino
Abstract excerpt
BACKGROUND: Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). This systematic review aims to identify the best reported therapy for these patients, relating to phenotype, neurodevelopmental outcome, and an eventual correlation between phenotype and genotype. METHODS: We searched on PubMed...
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