Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

• Telethon Kids Institute
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• Reports and Findings
• 2019
• August 2019

Research Officer ...

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Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

• Telethon Kids Institute
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• 2022
• April 2022

Researchers at the Telethon Kids Institute are one step closer to finding better treatments for a rare disease causing children to have multiple seizures a day. ...

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• 2016
• October

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

• Telethon Kids Institute
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• Reports and Findings
• 2017
• November 2017

Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 ...

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Research Assistant ...

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We know that children with developmental disabilities sometimes require life-long support. But siblings of children with disabilities may also face ...

Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research ...

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The Quality of Life Inventory - Disability ...

• Telethon Kids Institute
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• Brain and Behaviour
• Development and Disability
• Child Disability