Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder
Sign Up to like & getrecommendations! Published in 2018 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2018.07.013
Abstract: BACKGROUND Variants within the CDKL5 gene result in a severe epileptic encephalopathy now known as the CDKL5 Deficiency Disorder. Phenotypic characteristics include global developmental delay and early seizure onset with poor response to anti-epileptic medications.… read more here.
Keywords: treatment; disorder; deficiency disorder; cdkl5 ... See more keywords
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
Sign Up to like & getrecommendations! Published in 2022 at "Biochemical Society Transactions"
DOI: 10.1042/bst20220791
Abstract: CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Individuals with CDD suffer infantile onset, drug-resistant seizures, severe neurodevelopmental… read more here.
Keywords: cdkl5; development; cdkl5 deficiency; biology ... See more keywords
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac067
Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a neurodevelopmental disease characterized by severe infantile seizures and intellectual disability. The absence of CDKL5 in mice causes defective spine maturation that… read more here.
Keywords: pregnenolone methyl; cdkl5; methyl ether; spine maturation ... See more keywords
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac091
Abstract: Abstract Many neurodevelopmental disorders (NDDs) are the result of mutations on the X chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 deficiency disorder (CDD). CDD is an epigenetic, X-linked NDD… read more here.
Keywords: cognitive deficits; cdkl5 deficiency; touchscreen cognitive; hyperactivity ... See more keywords
Epileptic Spasms in CDKL5 Deficiency Disorder: Delayed Treatment and Poor Response to First-line Therapies.
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17630
Abstract: OBJECTIVE We aimed to assess treatment response of infantile-onset epileptic spasms (ES) in CDKL5 Deficiency Disorder (CDD) vs. other etiologies. METHODS We evaluated patients with ES from the CDKL5 Centers of Excellence and the National… read more here.
Keywords: response; cdkl5 deficiency; spasms cdkl5; treatment ... See more keywords
Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Child Neurology"
DOI: 10.1177/08830738211019284
Abstract: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is a rare neurodevelopmental disorder characterized by infantile-onset refractory epilepsy, profound developmental delays, and cerebral visual impairment. Although there is evidence that the presence of cerebral visual impairment in… read more here.
Keywords: visual impairment; deficiency disorder; cerebral visual; cdkl5 deficiency ... See more keywords
Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738221091044
Abstract: Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical… read more here.
Keywords: hand function; hand; cdkl5 deficiency; disorder ... See more keywords
Pharmacophore-Aided Virtual Screening and Molecular Dynamics Simulation Identifies TrkB Agonists for Treatment of CDKL5-Deficiency Disorders
Sign Up to like & getrecommendations! Published in 2023 at "Bioinformatics and Biology Insights"
DOI: 10.1177/11779322231158254
Abstract: Therapeutic intervention in cyclin-dependent kinase-like 5 (CDKL5) deficiency disorders (CDDs) has remained a concern over the years. Recent advances into the mechanistic interplay of signalling pathways has revealed the role of deficient tropomyosin receptor kinase… read more here.
Keywords: virtual screening; molecular dynamics; cdkl5 deficiency; trkb agonists ... See more keywords
Can a Mouse Help Us Unravel the Mysteries of CDKL5-Related Epilepsy?
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsy Currents"
DOI: 10.1177/15357597221125236
Abstract: CDKL5 Deficiency in Forebrain Glutamatergic Neurons Results in Recurrent Spontaneous Seizures Wang HT, Zhu ZA, Li YY, Lou SS, Yang G, Feng X, Xu W, Huang ZL, Cheng X, Xiong ZQ. Epilepsia. 2021;62(2):517-528. PMID: 33400301.… read more here.
Keywords: mouse; cdkl5 deficiency; activity; mice ... See more keywords
Age-Related Cognitive and Motor Decline in a Mouse Model of CDKL5 Deficiency Disorder is Associated with Increased Neuronal Senescence and Death
Sign Up to like & getrecommendations! Published in 2021 at "Aging and Disease"
DOI: 10.14336/ad.2020.0827
Abstract: CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. Children affected by CDD display a clinical phenotype characterized by early-onset epilepsy, intellectual disability, motor impairment, and autistic-like… read more here.
Keywords: cdkl5 mice; cdkl5; decline; motor ... See more keywords
Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20174075
Abstract: CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy caused by mutations in the X-linked CDKL5 gene that encodes a serine/threonine kinase. CDD is characterised by the early onset of seizures and impaired cognitive and… read more here.
Keywords: microtubules key; deficiency disorder; key understand; deficiency ... See more keywords