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Aim
To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile‐onset epilepsies.
Method
We performed a retrospective cohort study and ascertained individuals with CDD and comparison individuals with infantile‐onset epilepsy who had epilepsy gene panel testing. We reviewed records, updated variant classifications, and compared...
Objective
In the placebo‐controlled, double‐blind phase of the Marigold study (NCT03572933), ganaxolone significantly reduced major motor seizure frequency (MMSF) in patients with cyclin‐dependent kinase‐like 5 deficiency disorder (CDD). We report 2‐year safety and clinical outcomes data from the open‐label extension (OLE) phase of Marigold.
Methods
Patients with CDD who completed the double‐blind...
Objective
The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow‐up.
Methods
The effects of seizure and medication burden at baseline (high or...
Objective
Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta‐analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next‐generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology.
Methods
We performed...
Objective
Digital media conversations can provide important insight into the concerns and struggles of people with epilepsy (PWE) outside of formal clinical settings and help generate useful information for treatment planning. Our study aimed to explore the big data from open‐source digital conversations among PWE with regard to suicidality, specifically comparing teenagers and adults, using machine...
Objective
The cyclin‐dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequency of seizure‐free periods and cortical visual impairment (CVI), (3) correlate these features with genotype...
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