Vishnu Anand Cuddapah

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

Sleepiness, not total sleep amount, increases seizure risk

The paper shows that sleepiness, not total sleep amount, increases seizure risk in Drosophila models by identifying the role of sleep-promoting circuits and serotonin receptors.

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.