The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT...
| Main Authors: | Fehr, Stephanie, Wilson, Meredith, Downs, Jennepher, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John |
|---|---|
| Format: | Journal Article |
| Published: |
Nature Publishing Group
2012
|
| Online Access: | http://hdl.handle.net/20.500.11937/11790 |
Similar Items
Functional abilities in children and adults with the CDKL5 disorder
by: Fehr, S., et al.
Published: (2016)
by: Fehr, S., et al.
Published: (2016)
There is variability in the attainment of developmental milestones in the CDKL5 disorder
by: Fehr, S., et al.
Published: (2015)
by: Fehr, S., et al.
Published: (2015)
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder
by: Fehr, S., et al.
Published: (2016)
by: Fehr, S., et al.
Published: (2016)
Ketogenic diet to manage refractory epilepsy in the cdkl5 disorder
by: Lim, Z., et al.
Published: (2017)
by: Lim, Z., et al.
Published: (2017)
Screening of ARX, CDKL5 and STXBP1 gene mutations in Malaysian paediatric patients with early-onset epileptic encephalopathy by HRM technique
by: Jaafar, Ameerah
Published: (2015)
by: Jaafar, Ameerah
Published: (2015)
Sleep problems are pervasive in Rett syndrome and the CDKL5 disorder
by: Downs, Jennepher, et al.
Published: (2016)
by: Downs, Jennepher, et al.
Published: (2016)
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder
by: Tangarorang, J., et al.
Published: (2019)
by: Tangarorang, J., et al.
Published: (2019)
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
by: Mangatt, M., et al.
Published: (2016)
by: Mangatt, M., et al.
Published: (2016)
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
by: Mori, Y., et al.
Published: (2017)
by: Mori, Y., et al.
Published: (2017)
Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients
by: Lim, Z., et al.
Published: (2017)
by: Lim, Z., et al.
Published: (2017)
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
by: Hector, R., et al.
Published: (2017)
by: Hector, R., et al.
Published: (2017)
Multifactorial non-cirrhotic hyperammonaemic encephalopathy
by: Triplett, K., et al.
Published: (2018)
by: Triplett, K., et al.
Published: (2018)
The Development of Candidate Therapeutics for Transmissible Spongiform Encephalopathies
by: Zolnierczyk, Katarzyna
Published: (2021)
by: Zolnierczyk, Katarzyna
Published: (2021)
Early developmental outcomes following newborn encephalopathy
by: Dixon, G., et al.
Published: (2002)
by: Dixon, G., et al.
Published: (2002)
Caring for a child with severe intellectual disability in China: The example of Rett syndrome
by: Lim, Faye, et al.
Published: (2013)
by: Lim, Faye, et al.
Published: (2013)
The effects of probiotics and symbiotics on risk factors for hepatic encephalopathy
by: Viramontes Hörner, Daniela, et al.
Published: (2017)
by: Viramontes Hörner, Daniela, et al.
Published: (2017)
Clinical features and risk factors for HIV encephalopathy in children
by: Abd Hamid, Mohd Zaini, et al.
Published: (2008)
by: Abd Hamid, Mohd Zaini, et al.
Published: (2008)
Highly sensitive detection of small ruminant bovine spongiform encephalopathy within transmissible spongiform encephalopathy mixes by serial protein misfolding cyclic amplification
by: Gough, Kevin C., et al.
Published: (2014)
by: Gough, Kevin C., et al.
Published: (2014)
A Rare Case of Presacral Paraganglioma Presenting with Hypertensive Encephalopathy
by: Dhiraj KB.,, et al.
Published: (2015)
by: Dhiraj KB.,, et al.
Published: (2015)
Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett Syndrome
by: Fehr, S., et al.
Published: (2010)
by: Fehr, S., et al.
Published: (2010)
Acute necrotizing encephalopathy of childhood: a severe case with fatal outcome
by: Lee, Yee Lin, et al.
Published: (2020)
by: Lee, Yee Lin, et al.
Published: (2020)
Choroid plexus dysfunction: The initial event in the pathogenesis of Wernicke's encephalopathy and ethanol intoxication
by: Nixon, P., et al.
Published: (2008)
by: Nixon, P., et al.
Published: (2008)
Defining the clinicoradiologic syndrome of SARS-CoV-2 acute necrotizing encephalopathy
by: Lee, Vanessa W., et al.
Published: (2024)
by: Lee, Vanessa W., et al.
Published: (2024)
Nystagmus and abducens nerve palsy as an early presentation of non-alcoholic Wernicke encephalopathy
by: Darussalam, Siti Hajar, et al.
Published: (2024)
by: Darussalam, Siti Hajar, et al.
Published: (2024)
Trends in diagnosis of Rett Syndrome in Australia
by: Fehr, S., et al.
Published: (2011)
by: Fehr, S., et al.
Published: (2011)
Use of the Ages and Stages Questionnaire to predict outcome after hypoxic-ischaemic encephalopathy in the neonate
by: Lindsay, N., et al.
Published: (2008)
by: Lindsay, N., et al.
Published: (2008)
In vitro amplification of H-type atypical bovine spongiform encephalopathy by protein misfolding cyclic amplification
by: O'Connor, M.J., et al.
Published: (2017)
by: O'Connor, M.J., et al.
Published: (2017)
Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
by: Fehr, S., et al.
Published: (2011)
by: Fehr, S., et al.
Published: (2011)
Named entity recognition approaches
by: Mansouri, Alireza, et al.
Published: (2008)
by: Mansouri, Alireza, et al.
Published: (2008)
ZAKAT ON SHAKHSIYYAH ‘ITIBARIYYAH (LEGAL ENTITY)
by: Hasan, Aznan
Published: (2011)
by: Hasan, Aznan
Published: (2011)
KEWAJIPAN ZAKAT ATAS ENTITI KORPORAT
by: Hasan, Aznan
Published: (2008)
by: Hasan, Aznan
Published: (2008)
Entity and space cues in animated graphics
by: Lowe, Ric
Published: (2010)
by: Lowe, Ric
Published: (2010)
Cysticercosis breast - a rare entity.
by: Paras, KP, et al.
Published: (2013)
by: Paras, KP, et al.
Published: (2013)
Development of data persistent framework for modelling entity and entity relationship using DB4O object database
with Java
by: Yap, Ken, Chee Kian
Published: (2013)
by: Yap, Ken, Chee Kian
Published: (2013)
Family Trust Elections and Interposed Entity Elections
by: Pinto, Dale
Published: (2004)
by: Pinto, Dale
Published: (2004)
Immune reconstitution syndrome is not a single entity
by: Price, Patricia, et al.
Published: (2008)
by: Price, Patricia, et al.
Published: (2008)
Actinomyces infection of the mastoid: a rare entity
by: Subha, Sethu Thakachy, et al.
Published: (2004)
by: Subha, Sethu Thakachy, et al.
Published: (2004)
Intestinal microsporidiosis: a new entity in Malaysia?
by: Awang Hamat, Rukman, et al.
Published: (2008)
by: Awang Hamat, Rukman, et al.
Published: (2008)
Gaining Business Advantage From Climate Change
by: Demetriadi, Marilena
Published: (2005)
by: Demetriadi, Marilena
Published: (2005)
Using a large international sample to investigate epilepsy in Rett syndrome
by: Bao, X., et al.
Published: (2013)
by: Bao, X., et al.
Published: (2013)
Similar Items
-
Functional abilities in children and adults with the CDKL5 disorder
by: Fehr, S., et al.
Published: (2016) -
There is variability in the attainment of developmental milestones in the CDKL5 disorder
by: Fehr, S., et al.
Published: (2015) -
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder
by: Fehr, S., et al.
Published: (2016) -
Ketogenic diet to manage refractory epilepsy in the cdkl5 disorder
by: Lim, Z., et al.
Published: (2017) -
Screening of ARX, CDKL5 and STXBP1 gene mutations in Malaysian paediatric patients with early-onset epileptic encephalopathy by HRM technique
by: Jaafar, Ameerah
Published: (2015)