The transition from a pediatric to adult health care system is challenging for many youths
with epilepsy and their families. Recently, the Ministry of Health and Long‐Term Care of the …

Several genetic disorders are characterized by normal head size at birth, followed by
deceleration in head growth resulting in postnatal microcephaly. Among these are classic …

Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in∼
40% of patients. We hypothesized that unexplained IS cases represent a large collection of …

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the
presence of non-functional CDKL5 protein, ie, serine-threonine kinase (previously referred …

In recent years, several genes have been causally associated with epilepsy. However,
making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and …

Genetic engineering techniques have contributed to the now widespread use of zebrafish to
investigate gene function, but zebrafish-based human disease studies, and particularly for …

Functional abilities in the CDKL5 disorder have been described as severely impaired, yet
some individuals are able to run and use phrases for speech. Our study investigated gross …

Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental disorder caused
by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. It predominantly …

Background Individuals with the CDKL5 disorder have been described as having severely
impaired development. A few individuals have been reported having attained more …

Abstract The X-linked Cyclin-Dependent Kinase-Like 5 (CDKL5) gene encodes a serine-
threonine kinase highly expressed in the developing brain. Loss of function of CDKL5 is …