The PIKfyve-FIG4-VAC14 lipid kinase complex generates phosphoinositide PI(3,5)P2. Pathogenic variants in VAC14 and FIG4 cause neurodevelopmental disorders and PIKFYVE has been linked to autosomal dominant fleck corneal dystrophy. We searched for the underlyging, genetic cause of a neurodevelopmental disorder in five af...
L. Averdunk, Martin Groß, Anne Hamacher et al.· Brain : a journal of neurolo...· 0 citations
Summary Background Infection-triggered encephalopathy syndromes (ITES) are acute, para-infectious disorders that can cause disability or death. Recognition is increasingly important in viral pandemics, but clinical features and outcomes remain poorly understood. Methods PubMed search (inception to 6 March 2024) identif...
Michael Eyre, V. Han, Terrence Thomas et al.· EClinicalMedicine· 1 citation
Factor analysis revealed distinct 'cognitive and behavioural' and 'disinhibition and excitability' dimensions in the PASS items, which offers an alternative to adult scales, which may be difficult to use in children.
Priyanka Madaan, Suvasini Sharma, A. Easton et al.· Developmental Medicine & Chi...· 1 citation
Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.
Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al.· Developmental Medicine & Chi...· 0 citations
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