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
Management of cardiac arrhythmias in paediatric patients with TANGO2-deficiency disorder
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DOI: 10.1093/europace/euad122.351
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Background TANGO2-deficiency disorder (TDD) is a rare paediatric condition caused by bi-allelic mutations in the TANGO2 gene. TDD is characterised by susceptibility to metabolic crises with rhabdomyolysis,… read more here.
Keywords: paediatric patients; metabolic crises; patients tdd; deficiency disorder ... See more keywords
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
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DOI: 10.1111/cge.14328
Abstract: The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association… read more here.
Keywords: clinical heterogeneity; heterogeneity nadsyn1; nadsyn1 associated; nad deficiency ... 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
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13091655
Abstract: Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which… read more here.
Keywords: gene; slc13a5 deficiency; deficiency disorder; genetics ... 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
Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms21041493
Abstract: Human cells express large amounts of different proteins continuously that must fold into well-defined structures that need to remain correctly folded and assemble in order to ensure their cellular and biological functions. The integrity of… read more here.
Keywords: proteostasis; alpha antitrypsin; deficiency disorder; disorder proteostasis ... See more keywords