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 …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Prime editing enables the installation of virtually any combination of point mutations, small
insertions or small deletions in the DNA of living cells. A prime editing guide RNA (pegRNA) …

While prime editing enables precise sequence changes in DNA, cellular determinants of
prime editing remain poorly understood. Using pooled CRISPRi screens, we discovered that …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Background CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and
epileptic encephalopathy characterised by severe global developmental impairment and …

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 …

Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …

Neuroplasticity refers to the ability of brain circuits to reorganize and change the properties
of the network, resulting in alterations in brain function and behavior. It is traditionally …

CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome
associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase …