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 …

In the last years, the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene has been associated
with epileptic encephalopathies characterized by the early onset of intractable epilepsy…

Regeneration after injury occurs in axons that lie in the peripheral nervous system but fails
in the central nervous system, thereby limiting functional recovery. Differences in axonal …

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause CDKL5
Deficiency Disorder (CDD), a rare neurodevelopmental syndrome characterized by severe …

Mutations in the X-linked CDKL5 (cyclin-dependent kinase-like 5) gene have been associated
with several forms of neurodevelopmental disorders, including atypical Rett syndrome, …

Cyclin-dependent–like kinase 5 (CDKL5) gene mutations lead to an X-linked disorder that
is characterized by infantile epileptic encephalopathy, developmental delay, and hypotonia. …

Increased activity and excitability (sensitisation) of a series of molecules including the transient
receptor potential ion channel, vanilloid subfamily, member 1 (TRPV1) in pain-sensing (…

Background We present the clinical, MRI and CT findings in a case of a new mitochondrial
genome mutation (tRNA arginine gene), characterized by brain calcifications which are …

Regeneration after injury occurs in axons that lie in the peripheral nervous system but it fails
in the central nervous system limiting functional recovery. Despite recent progress, the …

Rett syndrome (RTT) is an X-linked form of mental retardation that occurs sporadically once
every 10,000-15,000 female births. After a period of normal development (6-18 months), the …