Associated Papers
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Sun Y et al.
Epilepsia Open, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Saez-Matia A et al.
International Journal of Molecular Sciences, 2024
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC et al.
Cells, 2022
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y et al.
Bmc Pediatrics, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F et al.
Neurology. Genetics, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
[The Function of Potassium Channel in KCNQ2 G271V Mutants of Benign Familial Neonatal Convulsions].
Hui ZY et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
Sands TT et al.
Epilepsia, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T et al.
Epilepsia, 2015
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV et al.
Human Mutation, 2014
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F et al.
Epilepsia, 2013
The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.
Miceli F et al.
Frontiers in Pharmacology, 2011
Novel mutation in KCNQ2 causing benign familial neonatal seizures.
Goldberg-Stern H et al.
Pediatric Neurology, 2009
Benign familial neonatal convulsions: novel mutation in a newborn.
Lee IC et al.
Pediatric Neurology, 2009
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007