ObjectiveTo report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation. MethodsAmong 979 patients with epilepsy and developmental delay who were admitted to the...
We focus on the KV7.2 voltage-gated potassium channel gene (KCNQ2), which is known for its association with developmental delay and various seizures (including self-limited benign familial neonatal epilepsy and epileptic encephalopathy). But the pathogenicity of many variants remains unproven, ...
The motor and intellectual development of two cases was normal, and two cases showed obvious developmental delay. ConclusionsThe onset time, mutation site and clinical phenotype of KCNQ2 gene mutation-related epilepsy are various. Gene detection can assist in diagnosis and provide reference for ...
KCNQ2 Cure Alliance is a non-profit organization focused on research and treatment for KCNQ2-related disorders in the medical and health sector. The organization provides family support and facilitates research and clinical trials for KCNQ2 developmental and epileptic encephalopathy. KCNQ2 Cure Alliance...
developmental and epileptic encephalopathy KCNQ2 Gabapentin precision medicine loss-of-function 1. INTRODUCTION De novo variants (DNVs) in KCNQ2 are major causes for early-onset developmental epileptic encephalopathy (DEE), with characteristic drug resistance and poor short-term prognosis in most patients...
The similarity of clinical presentation and the complementary functional work presented provide additional support for KCNQ3 as an NDD gene. Patients with KCNQ3 GoF variants at R227 and R230 presented with developmental delay within the first 2 years of life, with more than one-third of the coho...
principle subunits Kv 7.2/KCNQ2 and Kv 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous Kv 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay, and ...
Twelve patients had moderate-to-severe developmental delay at follow-up. However, the two patients whose seizures ceased within a few days of onset showed only mild cognitive impairment. Significance Our findings suggest that drugs acting on sodium channels including CBZ and PHT should be considered...
Interpretation:Patients carrying KCNQ2 R144 gain-of-function variants have developmental delay with prominent language impairment, autistic features, often accompanied by infantile- to childhood-onset epilepsy and EEG sleep-activated epileptiform activity. The absence of neonatal seizures is a robust and ...
KCNQ2-DEE is characterized by focal tonic seizures and severe developmental delay, which persists even when seizures are controlled. The lack of a clear understanding of the natural history of this disease makes this work of critical importance.Design/Methods: A 28-question online survey was ...