Author

R. Jauss

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Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · Molecular Psychiatry · 0 citations

Open access Sep 2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.

Z. Kowalzyk, J. Porrmann, P. Au et al. · Journal of Human Genetics · 0 citations

Open access Jul 2026

Expanding the electroclinical spectrum of TANC2 ‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

The electroclinical and developmental features of three patients carrying truncating TANC2 variants identified through trio‐exome sequencing within the European collaborative platform NETRE are described, expanding the known clinical spectrum of TANC2‐related disorders and suggesting that selected patients may have a m...

L. Perilli, Carlotta Stipa, Gianmichele Villano et al. · Epilepsia Open · 0 citations