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.
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.