Associated Papers
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
Wong SH et al.
Epilepsy & Behavior : E&b, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 2023
A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
Liu HF et al.
Molecular Medicine Reports, 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
Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy.
Lee IC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2021
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.
Lee IC et al.
Molecular Genetics & Genomic Medicine, 2019
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