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S. Mohammad

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Open access Oct 2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

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. · 0 citations
Open access Aug 2026

Infection-triggered encephalopathy syndromes: a meta-analysis of clinical characteristics and outcomes in 1946 cases

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. · 1 citation
Aug 2026

Development and validation of the Pediatric Autoimmune encephalitis Severity Scale in children with autoimmune encephalitis.

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. · 1 citation
Open access Jul 2026

Genetic testing in paediatric neurological disorders.

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. · 0 citations

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