New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …

Making a specific diagnosis in neurodevelopmental disorders is traditionally based on
recognizing clinical features of a distinct syndrome, which guides testing of its possible …

Abstract The Human Phenotype Ontology (HPO) is a dictionary of> 15,000 clinical
phenotypic terms with defined semantic relationships, developed to standardize phenotypic …

The insights gained from big data and omics approaches have transformed the field of
childhood genetic epilepsy. With an increasing number of individuals receiving genetic …

Purpose An early genetic diagnosis can guide the time-sensitive treatment of individuals
with genetic epilepsies. However, most genetic diagnoses occur long after disease onset …

Electronic health records (EHRs) represent a rich data source to support precision medicine,
particularly in disorders with small and heterogeneous populations where longitudinal …

Purpose CDKL5 deficiency disorder (CDD) is a developmental and epileptic
encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was …

EEG plays an integral part in the diagnosis and management of children with genetic
epilepsies. Nevertheless, how quantitative EEG features differ between genetic epilepsies …

Understanding the clinical characteristics and medical treatment of individuals affected by
genetic epilepsies is instrumental in guiding selection for genetic testing, defining the …

Variants in genes encoding the voltage-gated ion channels are among the most common
monogenic causes of epilepsy and neurodevelopmental disorders. Functional effects of a …