CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

CDKL5 mutations in early epileptic encephalopathy and in atypical forms of Rett syndrome

Rett syndrome (RTT, MIM #312750) is a neurodevelopmental disorder defined by a distinct set of clinical features, notably a regression that robs the affected individuals of spoken language and volitional hand use [1]. Additionally, affected people develop characteristic hand stereotypies that are classically wringing or washing in nature, although they make take on a variety of forms such as cl...

What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy

In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. The association of CDKL5 with neuro...

Myoclonic encephalopathy in the CDKL5 gene mutation.

OBJECTIVE Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation. METHODS We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 yea...

Epileptic Encephalopathy

Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...