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 …

Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …

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 …

Objective: To provide new insights into the interpretation of genetic variants in a rare
neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and …

Background Cyclin-dependent kinase-like 5 (CDKL5), which maps to chromosome Xp22. 13
and contains 20 coding exons, has been recognized as the gene responsible for early-onset …

Abstract Introduction West Syndrome is a severe epileptic encephalopathy characterized by
epileptic spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in …

Abstract Background CDKL5 Deficiency Disorder (CDD) is a rare developmental and
epileptic encephalopathy characterized by dominant X-linked inheritance and early infantile …

The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is
associated with type 2 developmental and epileptic encephalopathy (DEE). Although …

CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early-
onset encephalopathy, which is often considered the type of epileptic encephalopathy with …

Ранние эпилептические энцефалопатии (РЭЭ) группа заболеваний,
характеризующихся фармакорезистентными эпилептическими приступами …