Review synthesizes IQSEC2 variant features in developmental encephalopathy and Rett-like syndrome cases
New Clue Solves Mystery Behind Boys With Rett-Like Symptoms
This case report and literature review synthesizes data from two brothers, their mother, and 38 published cases of IQSEC2-related conditions…
• IQSEC2 gene mutations explain Rett-like symptoms in boys • Helps families with undiagnosed developmental delays and seizures • Genetic tes…
Genome sequencing identified diagnoses in 15% of individuals with unsolved developmental and epileptic encephalopathies
Genome sequencing finds diagnoses in 15% of unsolved epilepsy cases
This cohort study included 242 individuals with unsolved developmental and epileptic encephalopathies who were negative on prior genetic tes…
Genome sequencing identified a molecular diagnosis in 15% of people with unsolved epilepsy who had negative prior genetic testing results.
Atypical absences linked to higher autistic behavior scores in SYNGAP1-DEE patients
Seizure Type Predicts Autism Severity Better Than Frequency Does
This observational cohort study of 337 patients with SYNGAP1-related developmental and epileptic encephalopathy found that atypical absences…
For children with this rare condition, the kind of seizure matters more for autism symptoms than how often they occur.
Case series and literature review expands phenotypic spectrum of germline PIGA variants
Do fever spikes make seizures worse in children with specific genetic epilepsy?
This case series and literature review describes five germline PIGA missense pathogenic/likely pathogenic variants across six unrelated fami…
Every child with this rare epilepsy gene change reacts to fever, while specific genetic spots determine if symptoms are severe or mild.
Case report describes complex FBRSL1 variant in infant with developmental and epileptic encephalopathy
Doctors describe a new genetic finding in an infant with severe developmental disorder
A case report describes an infant girl with profound developmental and epileptic encephalopathy (DEE) and multiple congenital abnormalities.
A new genetic change in the FBRSL1 gene causes severe seizures and developmental delays in an infant, expanding what doctors know about this…