CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Current practice in diagnostic genetic testing of the epilepsies | Cairn.info Cairn.info, Matières
à réflexion Cairn.info, Matières à réflexion Aucune suggestion trouvée Compte personnel …

Importance There are many known acquired risk factors for cerebral palsy (CP), but in some
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …

Epilepsy includes a number of medical conditions with recurrent seizures as common
denominator. The large number of different syndromes and seizure types as well as the …

Clinical genetic laboratories must have access to clinically validated biomedical data for
precision medicine. A lack of accessibility, normalized structure, and consistency in …

T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are
involved in a wide variety of physiological functions, especially in nervous systems. Their …

Inherited bleeding, thrombotic, and platelet disorders (BTPD) are a heterogeneous set of
diseases. The most common inherited bleeding disorders are von Willebrand disease …

Abstract Objective Common data elements (CDEs) are standardized questions and answer
choices that allow aggregation, analysis, and comparison of observations from multiple …